MFSD1 (major facilitator superfamily domain containing 1)

Gene: MFSD1 (major facilitator superfamily domain containing 1) Homo sapiens

Analyze

Symbol:

MFSD1

Name:

major facilitator superfamily domain containing 1

RGD ID:

1346472

HGNC Page

HGNC:25874

Description:

Predicted to enable protein homodimerization activity. Predicted to be involved in protein localization to lysosome and protein stabilization. Predicted to be located in lysosomal membrane. Predicted to be active in lysosome.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

FLJ14153; major facilitator superfamily domain-containing protein 1; Minerva; SMAP-4; SMAP4; smooth muscle cell-associated protein 4; UG0581B09

RGD Orthologs

Alliance Genes

More Info

more info ...

Related Pseudogenes:

MFSD1P1

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	3	158,802,054 - 158,829,716 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	3	158,732,198 - 158,829,719 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	3	158,519,843 - 158,547,505 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	3	160,002,606 - 160,030,198 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	3	160,002,613 - 160,030,206	NCBI
Celera	3	156,942,471 - 156,970,268 (+)	NCBI		Celera
Cytogenetic Map	3	q25.32	NCBI
HuRef	3	155,915,581 - 155,943,367 (+)	NCBI		HuRef
CHM1_1	3	158,482,624 - 158,510,416 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	3	161,575,980 - 161,603,601 (+)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

genetic disease (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

1,2-dimethylhydrazine (ISO)

2,3,7,8-tetrachlorodibenzodioxine (ISO)

2,3,7,8-Tetrachlorodibenzofuran (ISO)

2,6-dinitrotoluene (ISO)

3-chloropropane-1,2-diol (ISO)

acrylamide (ISO)

aflatoxin B1 (EXP)

all-trans-retinoic acid (EXP)

amiodarone (ISO)

Aroclor 1254 (ISO)

atrazine (EXP)

benzo[a]pyrene (EXP,ISO)

bisphenol A (ISO)

carbamazepine (EXP)

carbon nanotube (ISO)

CGP 52608 (EXP)

clofibrate (ISO)

copper atom (ISO)

copper(0) (ISO)

crocidolite asbestos (ISO)

Cuprizon (ISO)

cyclosporin A (EXP)

dibutyl phthalate (ISO)

dorsomorphin (EXP)

doxorubicin (EXP)

ethanol (ISO)

formaldehyde (EXP)

leflunomide (ISO)

menadione (EXP)

methyl methanesulfonate (EXP)

methylmercury chloride (EXP)

N,N-diethyl-m-toluamide (ISO)

nefazodone (ISO)

paracetamol (ISO)

permethrin (ISO)

pirinixic acid (ISO)

resveratrol (EXP)

SB 431542 (EXP)

sodium arsenite (ISO)

sodium dichromate (EXP)

tacrolimus hydrate (ISO)

tetrachloromethane (ISO)

thioacetamide (ISO)

trovafloxacin (ISO)

valproic acid (EXP)

vinclozolin (ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

dipeptide transmembrane transport (IDA)

protein localization to lysosome (IEA,ISS)

protein stabilization (IEA,ISS)

transmembrane transport (IEA)

Cellular Component

lysosomal membrane (IDA,IEA)

lysosome (IBA,IEA,ISS)

membrane (IEA)

Molecular Function

dipeptide uniporter activity (IDA)

protein binding (ISO)

protein homodimerization activity (IEA,ISS)

transmembrane transporter activity (IEA)

References

References - curated

#	Reference Title	Reference Citation
1.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
2.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions
3.	Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.	Strausberg RL, etal., Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903. Epub 2002 Dec 11.

Additional References at PubMed

PMID:8889548	PMID:14702039	PMID:15489334	PMID:21752829	PMID:21873635	PMID:22658674	PMID:24024966	PMID:28986522	PMID:30910009	PMID:31661432	PMID:32393512	PMID:32807901
PMID:33961781	PMID:36517590	PMID:38507452

Genomics

Comparative Map Data

MFSD1
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	3	158,802,054 - 158,829,716 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	3	158,732,198 - 158,829,719 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	3	158,519,843 - 158,547,505 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	3	160,002,606 - 160,030,198 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	3	160,002,613 - 160,030,206	NCBI
Celera	3	156,942,471 - 156,970,268 (+)	NCBI		Celera
Cytogenetic Map	3	q25.32	NCBI
HuRef	3	155,915,581 - 155,943,367 (+)	NCBI		HuRef
CHM1_1	3	158,482,624 - 158,510,416 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	3	161,575,980 - 161,603,601 (+)	NCBI		T2T-CHM13v2.0

Mfsd1
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	3	67,490,101 - 67,511,564 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	3	67,490,074 - 67,511,570 (+)	Ensembl		GRCm39 Ensembl
GRCm38	3	67,582,768 - 67,604,231 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	3	67,582,741 - 67,604,237 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	3	67,386,690 - 67,408,153 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	3	67,670,697 - 67,692,160 (+)	NCBI		MGSCv36	mm8
Celera	3	67,709,416 - 67,730,879 (+)	NCBI		Celera
Cytogenetic Map	3	E1	NCBI
cM Map	3	31.07	NCBI

Mfsd1
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	2	154,156,167 - 154,176,209 (+)	NCBI		GRCr8
mRatBN7.2	2	151,846,130 - 151,866,168 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	2	151,846,146 - 151,867,045 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	2	158,963,053 - 158,983,289 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	2	157,013,548 - 157,033,784 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	2	151,646,296 - 151,666,532 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	2	164,747,655 - 164,767,682 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	2	164,747,677 - 164,767,682 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	2	184,095,514 - 184,115,522 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	2	157,432,951 - 157,452,956 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	2	157,382,939 - 157,400,624 (+)	NCBI
Celera	2	146,215,790 - 146,235,853 (+)	NCBI		Celera
Cytogenetic Map	2	q32	NCBI

Mfsd1
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955448	9,536,549 - 9,561,661 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955448	9,536,613 - 9,557,846 (+)	NCBI	ChiLan1.0	ChiLan1.0

MFSD1
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	2	156,742,121 - 156,818,814 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	3	156,679,244 - 156,820,488 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	3	155,758,133 - 155,899,272 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	3	163,878,611 - 163,946,103 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	3	163,878,833 - 163,903,955 (+)	Ensembl	panpan1.1		panPan2

MFSD1
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	34	25,069,701 - 25,094,196 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	34	25,069,696 - 25,092,386 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	34	29,159,099 - 29,183,659 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	34	25,012,255 - 25,036,853 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	34	25,012,238 - 25,036,848 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	34	25,050,102 - 25,074,425 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	34	25,012,792 - 25,037,357 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	34	25,255,267 - 25,279,836 (+)	NCBI		UU_Cfam_GSD_1.0

Mfsd1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024405602	84,321,103 - 84,341,152 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936519	5,392,777 - 5,412,856 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936519	5,392,820 - 5,412,847 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

MFSD1
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	13	98,592,370 - 98,615,523 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	13	98,592,344 - 98,615,061 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	13	107,004,118 - 107,049,836 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

MFSD1
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	15	31,995,285 - 32,043,708 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	15	32,016,368 - 32,043,586 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666041	4,579,860 - 4,607,106 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Mfsd1
(Heterocephalus glaber - naked mole-rat)

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla_female_1.0 Ensembl	NW_004624730	36,502,209 - 36,525,748 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624730	36,502,186 - 36,525,331 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in MFSD1
16 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 3q25.32-25.33(chr3:158614801-159429760)x3	copy number gain	See cases [RCV000051537]	Chr3:158614801..159429760 [GRCh38] Chr3:158332590..159147549 [GRCh37] Chr3:159815284..160630243 [NCBI36] Chr3:3q25.32-25.33	uncertain significance
GRCh38/hg38 3q24-26.32(chr3:147442566-178522531)x3	copy number gain	See cases [RCV000051724]	Chr3:147442566..178522531 [GRCh38] Chr3:147160353..178240319 [GRCh37] Chr3:148643043..179723013 [NCBI36] Chr3:3q24-26.32	pathogenic
GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	copy number gain	See cases [RCV000051725]	Chr3:147521892..198096565 [GRCh38] Chr3:147239679..197823436 [GRCh37] Chr3:148722369..199307833 [NCBI36] Chr3:3q24-29	pathogenic
GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3	copy number gain	See cases [RCV000051726]	Chr3:157293378..198134727 [GRCh38] Chr3:157011167..197861598 [GRCh37] Chr3:158493861..199345995 [NCBI36] Chr3:3q25.31-29	pathogenic
GRCh38/hg38 3q25.32-26.31(chr3:158141556-172788324)x3	copy number gain	See cases [RCV000051735]	Chr3:158141556..172788324 [GRCh38] Chr3:157859345..172506114 [GRCh37] Chr3:159342039..173988808 [NCBI36] Chr3:3q25.32-26.31	pathogenic
GRCh38/hg38 3q22.3-29(chr3:137126982-198110178)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051723]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051723]\|See cases [RCV000051723]	Chr3:137126982..198110178 [GRCh38] Chr3:136845824..197837049 [GRCh37] Chr3:138328514..199321446 [NCBI36] Chr3:3q22.3-29	pathogenic
GRCh38/hg38 3q25.32(chr3:158652224-159036456)x1	copy number loss	See cases [RCV000053997]	Chr3:158652224..159036456 [GRCh38] Chr3:158370013..158754245 [GRCh37] Chr3:159852707..160236939 [NCBI36] Chr3:3q25.32	uncertain significance
GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	copy number gain	See cases [RCV000134948]	Chr3:103426882..198110178 [GRCh38] Chr3:103145726..197837049 [GRCh37] Chr3:104628416..199321446 [NCBI36] Chr3:3q13.11-29	pathogenic
GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3	copy number gain	See cases [RCV000139435]	Chr3:152100512..198118383 [GRCh38] Chr3:151818301..197845254 [GRCh37] Chr3:153300991..199329651 [NCBI36] Chr3:3q25.1-29	pathogenic
GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3	copy number gain	See cases [RCV000140849]	Chr3:156321878..198113452 [GRCh38] Chr3:156039667..197840323 [GRCh37] Chr3:157522361..199324720 [NCBI36] Chr3:3q25.31-29	pathogenic
GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3	copy number gain	See cases [RCV000142310]	Chr3:156118441..198125115 [GRCh38] Chr3:155836230..197851986 [GRCh37] Chr3:157318924..199336383 [NCBI36] Chr3:3q25.31-29	pathogenic
GRCh38/hg38 3q25.32(chr3:158707865-158947436)x1	copy number loss	See cases [RCV000143358]	Chr3:158707865..158947436 [GRCh38] Chr3:158425654..158665225 [GRCh37] Chr3:159908348..160147919 [NCBI36] Chr3:3q25.32	uncertain significance\|conflicting data from submitters
GRCh38/hg38 3q25.32(chr3:158707865-158948178)x1	copy number loss	See cases [RCV000143763]	Chr3:158707865..158948178 [GRCh38] Chr3:158425654..158665967 [GRCh37] Chr3:159908348..160148661 [NCBI36] Chr3:3q25.32	likely benign\|uncertain significance
GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4	copy number gain	See cases [RCV000240256]	Chr3:142995020..192997215 [GRCh37] Chr3:3q24-29	pathogenic
GRCh37/hg19 3q25.32(chr3:158060351-158665225)x3	copy number gain	See cases [RCV000449404]	Chr3:158060351..158665225 [GRCh37] Chr3:3q25.32	uncertain significance
GRCh37/hg19 3q25.32-26.33(chr3:157128738-181637333)x3	copy number gain	See cases [RCV000446611]	Chr3:157128738..181637333 [GRCh37] Chr3:3q25.32-26.33	pathogenic
GRCh37/hg19 3q25.32(chr3:158405216-158776705)x1	copy number loss	See cases [RCV000446683]	Chr3:158405216..158776705 [GRCh37] Chr3:3q25.32	likely benign
GRCh37/hg19 3q24-26.2(chr3:147180945-168415875)x1	copy number loss	See cases [RCV000448130]	Chr3:147180945..168415875 [GRCh37] Chr3:3q24-26.2	pathogenic
GRCh37/hg19 3q25.2-29(chr3:152356847-197851986)x3	copy number gain	See cases [RCV000448608]	Chr3:152356847..197851986 [GRCh37] Chr3:3q25.2-29	pathogenic
GRCh37/hg19 3q25.32(chr3:158425654-158666381)x1	copy number loss	See cases [RCV000511114]	Chr3:158425654..158666381 [GRCh37] Chr3:3q25.32	uncertain significance
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	copy number gain	See cases [RCV000511055]	Chr3:61892..197851986 [GRCh37] Chr3:3p26.3-q29	pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	copy number gain	See cases [RCV000512358]	Chr3:61892..197851986 [GRCh37] Chr3:3p26.3-q29	pathogenic
GRCh37/hg19 3q25.32-25.33(chr3:157991657-159073531)x3	copy number gain	not provided [RCV000682320]	Chr3:157991657..159073531 [GRCh37] Chr3:3q25.32-25.33	uncertain significance
GRCh37/hg19 3q25.32(chr3:158416951-158532916)x1	copy number loss	not provided [RCV000682322]	Chr3:158416951..158532916 [GRCh37] Chr3:3q25.32	uncertain significance
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3	copy number gain	not provided [RCV000742138]	Chr3:61495..197838262 [GRCh37] Chr3:3p26.3-q29	pathogenic
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3	copy number gain	not provided [RCV000742133]	Chr3:60174..197948027 [GRCh37] Chr3:3p26.3-q29	pathogenic
GRCh37/hg19 3q25.32(chr3:157957741-158531803)x3	copy number gain	not provided [RCV000742903]	Chr3:157957741..158531803 [GRCh37] Chr3:3q25.32	benign
GRCh37/hg19 3q25.32(chr3:158459976-158671184)x1	copy number loss	not provided [RCV000742909]	Chr3:158459976..158671184 [GRCh37] Chr3:3q25.32	benign
GRCh37/hg19 3q25.32(chr3:158484933-158624804)x1	copy number loss	not provided [RCV000742910]	Chr3:158484933..158624804 [GRCh37] Chr3:3q25.32	benign
GRCh37/hg19 3q25.32(chr3:158405216-158776705)x1	copy number loss	not provided [RCV000849133]	Chr3:158405216..158776705 [GRCh37] Chr3:3q25.32	uncertain significance
GRCh37/hg19 3q25.31-25.33(chr3:156812581-160154747)x3	copy number gain	See cases [RCV001194528]	Chr3:156812581..160154747 [GRCh37] Chr3:3q25.31-25.33	uncertain significance
GRCh37/hg19 3q25.32(chr3:158149940-158802473)x3	copy number gain	not provided [RCV000848889]	Chr3:158149940..158802473 [GRCh37] Chr3:3q25.32	uncertain significance
NM_022736.4(MFSD1):c.482C>T (p.Ala161Val)	single nucleotide variant	Inborn genetic diseases [RCV003289838]	Chr3:158809220 [GRCh38] Chr3:158527009 [GRCh37] Chr3:3q25.32	uncertain significance
NM_022736.4(MFSD1):c.1100C>T (p.Ser367Leu)	single nucleotide variant	Inborn genetic diseases [RCV003291941]	Chr3:158823450 [GRCh38] Chr3:158541239 [GRCh37] Chr3:3q25.32	uncertain significance
NM_022736.4(MFSD1):c.662C>T (p.Thr221Met)	single nucleotide variant	Inborn genetic diseases [RCV003251590]	Chr3:158819658 [GRCh38] Chr3:158537447 [GRCh37] Chr3:3q25.32	uncertain significance
GRCh37/hg19 3q22.3-26.1(chr3:138145289-162275610)x3	copy number gain	See cases [RCV001194586]	Chr3:138145289..162275610 [GRCh37] Chr3:3q22.3-26.1	pathogenic
GRCh37/hg19 3q22.3-26.1(chr3:138173683-162494699)	copy number gain	Global developmental delay [RCV001352648]	Chr3:138173683..162494699 [GRCh37] Chr3:3q22.3-26.1	pathogenic
GRCh37/hg19 3q24-26.1(chr3:143439359-165252122)x1	copy number loss	not provided [RCV001795847]	Chr3:143439359..165252122 [GRCh37] Chr3:3q24-26.1	pathogenic
GRCh37/hg19 3q24-25.33(chr3:145486960-160504834)	copy number gain	not specified [RCV002053375]	Chr3:145486960..160504834 [GRCh37] Chr3:3q24-25.33	pathogenic
GRCh37/hg19 3q25.32-26.33(chr3:157128738-181637333)	copy number gain	not specified [RCV002053382]	Chr3:157128738..181637333 [GRCh37] Chr3:3q25.32-26.33	pathogenic
GRCh37/hg19 3q25.31-25.33(chr3:156768935-160158553)	copy number gain	not specified [RCV002053381]	Chr3:156768935..160158553 [GRCh37] Chr3:3q25.31-25.33	uncertain significance
GRCh37/hg19 3q25.32(chr3:158060351-158665225)	copy number gain	not specified [RCV002053383]	Chr3:158060351..158665225 [GRCh37] Chr3:3q25.32	uncertain significance
GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3	copy number gain	not provided [RCV002472621]	Chr3:116620308..172042292 [GRCh37] Chr3:3q13.31-26.31	pathogenic
NM_022736.4(MFSD1):c.215G>A (p.Arg72Gln)	single nucleotide variant	Inborn genetic diseases [RCV002839734]	Chr3:158804370 [GRCh38] Chr3:158522159 [GRCh37] Chr3:3q25.32	uncertain significance
NM_022736.4(MFSD1):c.1327C>T (p.Arg443Cys)	single nucleotide variant	Inborn genetic diseases [RCV002882520]	Chr3:158826053 [GRCh38] Chr3:158543842 [GRCh37] Chr3:3q25.32	uncertain significance
NM_022736.4(MFSD1):c.690G>C (p.Leu230Phe)	single nucleotide variant	Inborn genetic diseases [RCV002738932]	Chr3:158819686 [GRCh38] Chr3:158537475 [GRCh37] Chr3:3q25.32	uncertain significance
NM_022736.4(MFSD1):c.1097A>G (p.Tyr366Cys)	single nucleotide variant	Inborn genetic diseases [RCV002912276]	Chr3:158823447 [GRCh38] Chr3:158541236 [GRCh37] Chr3:3q25.32	uncertain significance
NM_022736.4(MFSD1):c.-43T>G	single nucleotide variant	Inborn genetic diseases [RCV002757109]	Chr3:158802110 [GRCh38] Chr3:158519899 [GRCh37] Chr3:3q25.32	likely benign
NM_022736.4(MFSD1):c.1076T>C (p.Met359Thr)	single nucleotide variant	Inborn genetic diseases [RCV002874057]	Chr3:158822139 [GRCh38] Chr3:158539928 [GRCh37] Chr3:3q25.32	uncertain significance
NM_022736.4(MFSD1):c.590C>G (p.Ser197Cys)	single nucleotide variant	Inborn genetic diseases [RCV002939540]	Chr3:158814005 [GRCh38] Chr3:158531794 [GRCh37] Chr3:3q25.32	uncertain significance
NM_022736.4(MFSD1):c.1328G>A (p.Arg443His)	single nucleotide variant	Inborn genetic diseases [RCV002920336]	Chr3:158826054 [GRCh38] Chr3:158543843 [GRCh37] Chr3:3q25.32	uncertain significance
NM_022736.2(MFSD1):c.38T>G (p.Val13Gly)	single nucleotide variant	Inborn genetic diseases [RCV003197917]	Chr3:158802043 [GRCh38] Chr3:158519832 [GRCh37] Chr3:3q25.32	uncertain significance
NM_022736.4(MFSD1):c.1234C>G (p.Leu412Val)	single nucleotide variant	Inborn genetic diseases [RCV003284686]	Chr3:158824182 [GRCh38] Chr3:158541971 [GRCh37] Chr3:3q25.32	uncertain significance
NM_022736.4(MFSD1):c.814A>C (p.Ile272Leu)	single nucleotide variant	Inborn genetic diseases [RCV003186277]	Chr3:158820277 [GRCh38] Chr3:158538066 [GRCh37] Chr3:3q25.32	uncertain significance
NM_022736.4(MFSD1):c.1280G>C (p.Cys427Ser)	single nucleotide variant	Inborn genetic diseases [RCV003194562]	Chr3:158824228 [GRCh38] Chr3:158542017 [GRCh37] Chr3:3q25.32	uncertain significance
NM_022736.4(MFSD1):c.631C>T (p.Leu211Phe)	single nucleotide variant	Inborn genetic diseases [RCV003373538]	Chr3:158814046 [GRCh38] Chr3:158531835 [GRCh37] Chr3:3q25.32	uncertain significance
GRCh37/hg19 3q25.32(chr3:158405217-158775879)x1	copy number loss	not provided [RCV003485403]	Chr3:158405217..158775879 [GRCh37] Chr3:3q25.32	uncertain significance
Single allele	duplication	not provided [RCV003448680]	Chr3:140154329..197847235 [GRCh37] Chr3:3q23-29	pathogenic

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	3197
Count of miRNA genes:	899
Interacting mature miRNAs:	1062
Transcripts:	ENST00000264266, ENST00000392813, ENST00000415822, ENST00000465235, ENST00000465624, ENST00000465739, ENST00000468409, ENST00000471266, ENST00000471500, ENST00000474670, ENST00000476860, ENST00000477743, ENST00000480292, ENST00000482835, ENST00000484166, ENST00000486568, ENST00000489639, ENST00000491804, ENST00000495318
Prediction methods:	Miranda, Rnahybrid
Result types:	miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region

SHGC-52391

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	3	158,519,062 - 158,519,249	UniSTS	GRCh37
Build 36	3	160,001,756 - 160,001,943	RGD	NCBI36
Celera	3	156,941,818 - 156,942,005	RGD
Cytogenetic Map	3	q25.32	UniSTS
HuRef	3	155,914,928 - 155,915,115	UniSTS
GeneMap99-G3 RH Map	3	7578.0	UniSTS

SHGC-132809

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	3	158,519,152 - 158,519,421	UniSTS	GRCh37
Build 36	3	160,001,846 - 160,002,115	RGD	NCBI36
Celera	3	156,941,908 - 156,942,177	RGD
Cytogenetic Map	3	q25.32	UniSTS
HuRef	3	155,915,018 - 155,915,287	UniSTS

SGC33811

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	3	158,546,995 - 158,547,136	UniSTS	GRCh37
Build 36	3	160,029,689 - 160,029,830	RGD	NCBI36
Celera	3	156,969,755 - 156,969,896	RGD
Cytogenetic Map	3	q25.32	UniSTS
HuRef	3	155,942,854 - 155,942,995	UniSTS
GeneMap99-GB4 RH Map	3	584.74	UniSTS
Whitehead-RH Map	3	718.6	UniSTS

RH17522

Human Assembly	Chr	Position (strand)	Source
Cytogenetic Map	3	q25.32	UniSTS
HuRef	3	155,942,674 - 155,942,897	UniSTS
GeneMap99-GB4 RH Map	16	435.22	UniSTS
NCBI RH Map	16	584.4	UniSTS

Expression

RNA-SEQ Expression

High: > 1000 TPM value Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system

circulatory system

endocrine system

exocrine system

hemolymphoid system

hepatobiliary system

integumental system

musculoskeletal system

nervous system

renal system

reproductive system

respiratory system

sensory system

visual system

adipose tissue

appendage

entire extraembryonic component

pharyngeal arch

High

Medium

2395

2575

1629

534

1846

376

3505

1232

2613

379

1363

1597

171

1204

2120

Low

413

105

849

963

1106

668

Below cutoff

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_001167903	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001289406	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001289407	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_022736	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NR_110328	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_006713730	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047448732	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047448733	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054347567	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054347568	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054347569	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_924162	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AB014732	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC080013	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC128694	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF351617	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK023478	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK024215	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK294628	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK297034	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK297593	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK300497	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK301680	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AX191565	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC017661	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC030542	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC042197	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BU608918	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471052	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068275	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENST00000264266 ⟹ ENSP00000264266

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	158,802,091 - 158,829,116 (+)	Ensembl

RefSeq Acc Id:

ENST00000392813 ⟹ ENSP00000376560

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	158,801,926 - 158,829,718 (+)	Ensembl

RefSeq Acc Id:

ENST00000415822 ⟹ ENSP00000403117

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	158,802,054 - 158,829,716 (+)	Ensembl

RefSeq Acc Id:

ENST00000465235

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	158,822,443 - 158,829,718 (+)	Ensembl

RefSeq Acc Id:

ENST00000465624

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	158,819,547 - 158,829,163 (+)	Ensembl

RefSeq Acc Id:

ENST00000465739 ⟹ ENSP00000418055

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	158,747,577 - 158,805,474 (+)	Ensembl

RefSeq Acc Id:

ENST00000468409

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	158,823,194 - 158,824,476 (+)	Ensembl

RefSeq Acc Id:

ENST00000471266 ⟹ ENSP00000419281

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	158,802,137 - 158,809,261 (+)	Ensembl

RefSeq Acc Id:

ENST00000471500 ⟹ ENSP00000420816

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	158,802,156 - 158,829,715 (+)	Ensembl

RefSeq Acc Id:

ENST00000474670 ⟹ ENSP00000419708

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	158,802,379 - 158,813,981 (+)	Ensembl

RefSeq Acc Id:

ENST00000476860

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	158,804,231 - 158,809,273 (+)	Ensembl

RefSeq Acc Id:

ENST00000477743 ⟹ ENSP00000417163

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	158,809,237 - 158,823,486 (+)	Ensembl

RefSeq Acc Id:

ENST00000480292 ⟹ ENSP00000419467

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	158,802,057 - 158,829,716 (+)	Ensembl

RefSeq Acc Id:

ENST00000482835 ⟹ ENSP00000418503

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	158,802,486 - 158,807,440 (+)	Ensembl

RefSeq Acc Id:

ENST00000484166 ⟹ ENSP00000417950

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	158,802,051 - 158,829,716 (+)	Ensembl

RefSeq Acc Id:

ENST00000486568 ⟹ ENSP00000417414

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	158,732,198 - 158,807,421 (+)	Ensembl

RefSeq Acc Id:

ENST00000489639

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	158,809,002 - 158,819,706 (+)	Ensembl

RefSeq Acc Id:

ENST00000491804 ⟹ ENSP00000420699

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	158,732,357 - 158,804,371 (+)	Ensembl

RefSeq Acc Id:

ENST00000622669 ⟹ ENSP00000484175

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	158,801,926 - 158,829,718 (+)	Ensembl

RefSeq Acc Id:

ENST00000651862 ⟹ ENSP00000498818

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	158,802,054 - 158,829,719 (+)	Ensembl

RefSeq Acc Id:

NM_001167903 ⟹ NP_001161375

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	3	158,802,054 - 158,829,716 (+)	NCBI
GRCh37	3	158,519,051 - 158,547,508 (+)	NCBI
Celera	3	156,942,471 - 156,970,268 (+)	RGD
HuRef	3	155,915,581 - 155,943,367 (+)	ENTREZGENE
CHM1_1	3	158,482,624 - 158,510,416 (+)	NCBI
T2T-CHM13v2.0	3	161,575,980 - 161,603,601 (+)	NCBI

Sequence:

show sequence

AGTCATGTGACCGCCGTCTTGACAGTGTTCCACGGGCGCTGCTTCCTGCCTGGGTTTGGAGTTG
TCACCACTTTCCCCTCTCCGTCTCCTGCGGGCGCAATGGAGGAGGAGGATGAGGAAGCGCGGGC
GCTCCTGGCAGGCGGCCCTGACGAGGCCGACAGAGGTGCCCCGGCCGCCCCTGGAGCCCTGCCG
GCCCTCTGCGACCCCAGTCGCCTGGCGCACCGGCTTTTGGTGCTGTTACTGATGTGCTTCCTTG
GCTTTGCTATTTTTGCTATGATAATCCTGCTGCCCTTCAGACTCAAGTTAAACGAATGGGGCAC
AATCATTTTTAGCTGCTTTGTTTGCATTGGACAGGTTGTTTTTGCCCTGGGTGGAATATTTAAT
GCTTTTTGGCTGATGGAATTTGGAAGATTTGTATTTGGGATTGGTGGCGAGTCCTTAGCAGTTG
CCCAGAATACATATGCTGTGAGCTGGTTTAAAGGCAAAGAATTAAACCTGGTGTTTGGACTTCA
ACTTAGCATGGCTAGAATTGGAAGTACAGTAAACATGAACCTCATGGGATGGCTGTATTCTAAG
ATTGAAGCTTTGTTAGGTTCTGCTGGTCACACAACCCTCGGGATCACACTTATGATTGGGGGTA
TAACGTGTATTCTTTCACTAATCTGTGCCTTGGCTCTTGCCTACTTGGATCAGAGAGCAGAGAG
AATCCTTCATAAAGAACAAGGAAAAACAGGTGAAGTTATTAAATTAACTGATGTAAAGGACTTC
TCCTTACCCCTGTGGCTTATATTTATCATCTGTGTCTGCTATTATGTTGCTGTGTTCCCTTTTA
TTGGACTTGGGAAAGTTTTCTTTACAGAGAAATTTGGATTTTCTTCCCAGGCAGCAAGTGCAAT
TAACAGTGTTGTATATGTCATATCAGCTCCCATGTCCCCGGTGTTTGGGCTCCTGGTGGATAAA
ACAGGGAAGAACATCATCTGGGTTCTTTGCGCAGTAGCAGCCACTCTTGTGTCCCACATGATGC
TGGCCTTTACGATGTGGAACCCTTGGATTGCTATGTGTCTTCTGGGACTCTCCTACTCATTGCT
TGCCTGTGCATTGTGGCCAATGGTGGCATTTGTAGTTCCTGAACATCAGCTGGGAACTGCATAT
GGCTTCATGCAGTCCATTCAGAATCTTGGGTTGGCCATCATTTCCATCATTGCTGGTATGATAC
TGGATTCTCGGGGGTATTTGTTTTTGGAAGTGTTCTTCATTGCCTGTGTTTCTTTGTCACTTTT
ATCTGTGGTCTTACTCTATTTGGTGAATCGTGCCCAGGGTGGGAACCTAAATTATTCTGCAAGA
CAAAGGGAAGAAATAAAATTTTCCCATACTGAATGAGAAGTTAAAATGAATGTGTCATGAGAAT
GGGCTTAACACATCGTTGGTTTGAAAACTTCCATTTTTAAAAATTTAGAGTTTAGTCATTAGAA
AAAATAATGGACTGGAAAGTTATATTTATATCCAAATATACCTATTTCAAAGTGTATTTGTGAG
GCCTGTTTTAGCCTGTGTCTTTTGTATTGTGTGTTGCTAAAGAATTCTACTTTTAGTAGGCTAA
TCAACAATGAAAGGGTTAGAAAATTGCTGTGGAACATCCAGGTGAACTTCAGGAAAGACAGTGA
AAAATGGAAAACGTTGGAGCTTCTGTTGAGATAATCTTCATTAGGTATATATCTTAGGGATACA
GCCTTTTCTTTATCTTATAGCAGGAAAAAAAAACTTTTGAGGGAAATAGAAGGGCTGCGTTACA
CAAAATAAACAATGGCATTGTCATAGGCCTTCCTTTTACTAGTAGGGCATAATGCTAGGGAATA
TGTGAAGATGTTTTTATGAAGTCTCTTTCTGATCACGAACAATAGCTTGCGCTCTACTCTGTAG
TTATGTGGATTGCCGAGCAATGACCCTTTTCAATTTCTTATTTCTGTGTTACTGAGGACCCTAA
TCACTTAGGGATGTAATTTTATAGTATAAACTTTCTGTACAGTTTTTCTTATAGTCTAATAAGT
AAAAAGTGTCCTTCAAATTATGATAATTGCCTATGTACATGGATAAATTAAAACACTGCACACG
GA

hide sequence

RefSeq Acc Id:

NM_001289406 ⟹ NP_001276335

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	3	158,802,054 - 158,829,716 (+)	NCBI
HuRef	3	155,915,581 - 155,943,367 (+)	NCBI
CHM1_1	3	158,482,624 - 158,510,416 (+)	NCBI
T2T-CHM13v2.0	3	161,575,980 - 161,603,601 (+)	NCBI

Sequence:

show sequence

AGTCATGTGACCGCCGTCTTGACAGTGTTCCACGGGCGCTGCTTCCTGCCTGGGTTTGGAGTTG
TCACCACTTTCCCCTCTCCGTCTCCTGCGGGCGCAATGGAGGAGGAGGATGAGGAAGCGCGGGC
GCTCCTGGCAGGCGGCCCTGACGAGGCCGACAGAGGTGCCCCGGCCGCCCCTGGAGCCCTGCCG
GCCCTCTGCGACCCCAGTCGCCTGGCGCACCGGCTTTTGGTGCTGTTACTGATGTGCTTCCTTG
GCTTTGGCAGCTATTTTTGCTATGATAATCCTGCTGCCCTTCAGACTCAAGTTAAACGAATGGG
GCACAATCATTTTTAGCTGCTTTGTTTGCATTGGACAGGTTGTTTTTGCCCTGGGTGGAATATT
TAATGCTTTTTGGCTGATGGAATTTGGAAGATTTGTATTTGGGATTGGTGGCGAGTCCTTAGCA
GTTGCCCAGAATACATATGCTGTGAGCTGGTTTAAAGGCAAAGAATTAAACCTGGTGTTTGGAC
TTCAACTTAGCATGGCTAGAATTGGAAGTACAGTAAACATGAACCTCATGGGATGGCTGTATTC
TAAGATTGAAGCTTTGTTAGGTTCTGCTGGTCACACAACCCTCGGGATCACACTTATGATTGGG
GGTATAACGTGTATTCTTTCACTAATCTGTGCCTTGGCTCTTGCCTACTTGGATCAGAGAGCAG
AGAGAATCCTTCATAAAGAACAAGGAAAAACAGGTGAAGTTATTAAATTAACTGATGTAAAGGA
CTTCTCCTTACCCCTGTGGCTTATATTTATCATCTGTGTCTGCTATTATGTTGCTGTGTTCCCT
TTTATTGGACTTGGGAAAGTTTTCTTTACAGAGAAATTTGGATTTTCTTCCCAGGCAGCAAGTG
CAATTAACAGTGTTGTATATGTCATATCAGCTCCCATGTCCCCGGTGTTTGGGCTCCTGGTGGA
TAAAACAGGGAAGAACATCATCTGGGTTCTTTGCGCAGTAGCAGCCACTCTTGTGTCCCACATG
ATGCTGGCCTTTACGATGTGGAACCCTTGGATTGCTATGTGTCTTCTGGGACTCTCCTACTCAT
TGCTTGCCTGTGCATTGTGGCCAATGGTGGCATTTGTAGTTCCTGAACATCAGCTGGGAACTGC
ATATGGCTTCATGCAGTCCATTCAGAATCTTGGGTTGGCCATCATTTCCATCATTGCTGGTATG
ATACTGGATTCTCGGGGGTATTTGTTTTTGGAAGTGTTCTTCATTGCCTGTGTTTCTTTGTCAC
TTTTATCTGTGGTCTTACTCTATTTGGTGAATCGTGCCCAGGGTGGGAACCTAAATTATTCTGC
AAGACAAAGGGAAGAAATAAAATTTTCCCATACTGAATGAGAAGTTAAAATGAATGTGTCATGA
GAATGGGCTTAACACATCGTTGGTTTGAAAACTTCCATTTTTAAAAATTTAGAGTTTAGTCATT
AGAAAAAATAATGGACTGGAAAGTTATATTTATATCCAAATATACCTATTTCAAAGTGTATTTG
TGAGGCCTGTTTTAGCCTGTGTCTTTTGTATTGTGTGTTGCTAAAGAATTCTACTTTTAGTAGG
CTAATCAACAATGAAAGGGTTAGAAAATTGCTGTGGAACATCCAGGTGAACTTCAGGAAAGACA
GTGAAAAATGGAAAACGTTGGAGCTTCTGTTGAGATAATCTTCATTAGGTATATATCTTAGGGA
TACAGCCTTTTCTTTATCTTATAGCAGGAAAAAAAAACTTTTGAGGGAAATAGAAGGGCTGCGT
TACACAAAATAAACAATGGCATTGTCATAGGCCTTCCTTTTACTAGTAGGGCATAATGCTAGGG
AATATGTGAAGATGTTTTTATGAAGTCTCTTTCTGATCACGAACAATAGCTTGCGCTCTACTCT
GTAGTTATGTGGATTGCCGAGCAATGACCCTTTTCAATTTCTTATTTCTGTGTTACTGAGGACC
CTAATCACTTAGGGATGTAATTTTATAGTATAAACTTTCTGTACAGTTTTTCTTATAGTCTAAT
AAGTAAAAAGTGTCCTTCAAATTATGATAATTGCCTATGTACATGGATAAATTAAAACACTGCA
CACGGA

hide sequence

RefSeq Acc Id:

NM_001289407 ⟹ NP_001276336

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	3	158,802,054 - 158,829,716 (+)	NCBI
HuRef	3	155,915,581 - 155,943,367 (+)	NCBI
CHM1_1	3	158,482,624 - 158,510,416 (+)	NCBI
T2T-CHM13v2.0	3	161,575,980 - 161,603,601 (+)	NCBI

Sequence:

show sequence

AGTCATGTGACCGCCGTCTTGACAGTGTTCCACGGGCGCTGCTTCCTGCCTGGGTTTGGAGTTG
TCACCACTTTCCCCTCTCCGTCTCCTGCGGGCGCAATGGAGGAGGAGGATGAGGAAGCGCGGGC
GCTCCTGGCAGGCGGCCCTGACGAGGCCGACAGAGGTGCCCCGGCCGCCCCTGGAGCCCTGCCG
GCCCTCTGCGACCCCAGTCGCCTGGCGCACCGGCTTTTGGCAGCTATTTTTGCTATGATAATCC
TGCTGCCCTTCAGACTCAAGTTAAACGAGATATGCAAGTGAATACCACGAAATTCATGCTGCTG
TATGCCTGGTATTCTTGGCCCAATGTAGTTTTGTGTTTCTTTGGTGGCTTTTTGATAGACCGAG
TATTTGGAATACGATGGGGCACAATCATTTTTAGCTGCTTTGTTTGCATTGGACAGGTTGTTTT
TGCCCTGGGTGGAATATTTAATGCTTTTTGGCTGATGGAATTTGGAAGATTTGTATTTGGGATT
GGTGGCGAGTCCTTAGCAGTTGCCCAGAATACATATGCTGTGAGCTGGTTTAAAGGCAAAGAAT
TAAACCTGGTGTTTGGACTTCAACTTAGCATGGCTAGAATTGGAAGTACAGTAAACATGAACCT
CATGGGATGGCTGTATTCTAAGATTGAAGCTTTGTTAGGTTCTGCTGGTCACACAACCCTCGGG
ATCACACTTATGATTGGGGGTATAACGTGTATTCTTTCACTAATCTGTGCCTTGGCTCTTGCCT
ACTTGGATCAGAGAGCAGAGAGAATCCTTCATAAAGAACAAGGAAAAACAGGTGAAGTTATTAA
ATTAACTGATGTAAAGGACTTCTCCTTACCCCTGTGGCTTATATTTATCATCTGTGTCTGCTAT
TATGTTGCTGTGTTCCCTTTTATTGGACTTGGGAAAGTTTTCTTTACAGAGAAATTTGGATTTT
CTTCCCAGGCAGCAAGTGCAATTAACAGTGTTGTATATGTCATATCAGCTCCCATGTCCCCGGT
GTTTGGGCTCCTGGTGGATAAAACAGGGAAGAACATCATCTGGGTTCTTTGCGCAGTAGCAGCC
ACTCTTGTGTCCCACATGATGCTGGCCTTTACGATGTGGAACCCTTGGATTGCTATGTGTCTTC
TGGGACTCTCCTACTCATTGCTTGCCTGTGCATTGTGGCCAATGGTGGCATTTGTAGTTCCTGA
ACATCAGCTGGGAACTGCATATGGCTTCATGCAGTCCATTCAGAATCTTGGGTTGGCCATCATT
TCCATCATTGCTGGTATGATACTGGATTCTCGGGGGTATTTGTTTTTGGAAGTGTTCTTCATTG
CCTGTGTTTCTTTGTCACTTTTATCTGTGGTCTTACTCTATTTGGTGAATCGTGCCCAGGGTGG
GAACCTAAATTATTCTGCAAGACAAAGGGAAGAAATAAAATTTTCCCATACTGAATGAGAAGTT
AAAATGAATGTGTCATGAGAATGGGCTTAACACATCGTTGGTTTGAAAACTTCCATTTTTAAAA
ATTTAGAGTTTAGTCATTAGAAAAAATAATGGACTGGAAAGTTATATTTATATCCAAATATACC
TATTTCAAAGTGTATTTGTGAGGCCTGTTTTAGCCTGTGTCTTTTGTATTGTGTGTTGCTAAAG
AATTCTACTTTTAGTAGGCTAATCAACAATGAAAGGGTTAGAAAATTGCTGTGGAACATCCAGG
TGAACTTCAGGAAAGACAGTGAAAAATGGAAAACGTTGGAGCTTCTGTTGAGATAATCTTCATT
AGGTATATATCTTAGGGATACAGCCTTTTCTTTATCTTATAGCAGGAAAAAAAAACTTTTGAGG
GAAATAGAAGGGCTGCGTTACACAAAATAAACAATGGCATTGTCATAGGCCTTCCTTTTACTAG
TAGGGCATAATGCTAGGGAATATGTGAAGATGTTTTTATGAAGTCTCTTTCTGATCACGAACAA
TAGCTTGCGCTCTACTCTGTAGTTATGTGGATTGCCGAGCAATGACCCTTTTCAATTTCTTATT
TCTGTGTTACTGAGGACCCTAATCACTTAGGGATGTAATTTTATAGTATAAACTTTCTGTACAG
TTTTTCTTATAGTCTAATAAGTAAAAAGTGTCCTTCAAATTATGATAATTGCCTATGTACATGG
ATAAATTAAAACACTGCACACGGA

hide sequence

RefSeq Acc Id:

NM_022736 ⟹ NP_073573

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	3	158,802,054 - 158,829,716 (+)	NCBI
GRCh37	3	158,519,051 - 158,547,508 (+)	NCBI
Build 36	3	160,002,606 - 160,030,198 (+)	NCBI Archive
Celera	3	156,942,471 - 156,970,268 (+)	RGD
HuRef	3	155,915,581 - 155,943,367 (+)	ENTREZGENE
CHM1_1	3	158,482,624 - 158,510,416 (+)	NCBI
T2T-CHM13v2.0	3	161,575,980 - 161,603,601 (+)	NCBI

Sequence:

show sequence

AGTCATGTGACCGCCGTCTTGACAGTGTTCCACGGGCGCTGCTTCCTGCCTGGGTTTGGAGTTG
TCACCACTTTCCCCTCTCCGTCTCCTGCGGGCGCAATGGAGGAGGAGGATGAGGAAGCGCGGGC
GCTCCTGGCAGGCGGCCCTGACGAGGCCGACAGAGGTGCCCCGGCCGCCCCTGGAGCCCTGCCG
GCCCTCTGCGACCCCAGTCGCCTGGCGCACCGGCTTTTGGTGCTGTTACTGATGTGCTTCCTTG
GCTTTGGCAGCTATTTTTGCTATGATAATCCTGCTGCCCTTCAGACTCAAGTTAAACGAGATAT
GCAAGTGAATACCACGAAATTCATGCTGCTGTATGCCTGGTATTCTTGGCCCAATGTAGTTTTG
TGTTTCTTTGGTGGCTTTTTGATAGACCGAGTATTTGGAATACGATGGGGCACAATCATTTTTA
GCTGCTTTGTTTGCATTGGACAGGTTGTTTTTGCCCTGGGTGGAATATTTAATGCTTTTTGGCT
GATGGAATTTGGAAGATTTGTATTTGGGATTGGTGGCGAGTCCTTAGCAGTTGCCCAGAATACA
TATGCTGTGAGCTGGTTTAAAGGCAAAGAATTAAACCTGGTGTTTGGACTTCAACTTAGCATGG
CTAGAATTGGAAGTACAGTAAACATGAACCTCATGGGATGGCTGTATTCTAAGATTGAAGCTTT
GTTAGGTTCTGCTGGTCACACAACCCTCGGGATCACACTTATGATTGGGGGTATAACGTGTATT
CTTTCACTAATCTGTGCCTTGGCTCTTGCCTACTTGGATCAGAGAGCAGAGAGAATCCTTCATA
AAGAACAAGGAAAAACAGGTGAAGTTATTAAATTAACTGATGTAAAGGACTTCTCCTTACCCCT
GTGGCTTATATTTATCATCTGTGTCTGCTATTATGTTGCTGTGTTCCCTTTTATTGGACTTGGG
AAAGTTTTCTTTACAGAGAAATTTGGATTTTCTTCCCAGGCAGCAAGTGCAATTAACAGTGTTG
TATATGTCATATCAGCTCCCATGTCCCCGGTGTTTGGGCTCCTGGTGGATAAAACAGGGAAGAA
CATCATCTGGGTTCTTTGCGCAGTAGCAGCCACTCTTGTGTCCCACATGATGCTGGCCTTTACG
ATGTGGAACCCTTGGATTGCTATGTGTCTTCTGGGACTCTCCTACTCATTGCTTGCCTGTGCAT
TGTGGCCAATGGTGGCATTTGTAGTTCCTGAACATCAGCTGGGAACTGCATATGGCTTCATGCA
GTCCATTCAGAATCTTGGGTTGGCCATCATTTCCATCATTGCTGGTATGATACTGGATTCTCGG
GGGTATTTGTTTTTGGAAGTGTTCTTCATTGCCTGTGTTTCTTTGTCACTTTTATCTGTGGTCT
TACTCTATTTGGTGAATCGTGCCCAGGGTGGGAACCTAAATTATTCTGCAAGACAAAGGGAAGA
AATAAAATTTTCCCATACTGAATGAGAAGTTAAAATGAATGTGTCATGAGAATGGGCTTAACAC
ATCGTTGGTTTGAAAACTTCCATTTTTAAAAATTTAGAGTTTAGTCATTAGAAAAAATAATGGA
CTGGAAAGTTATATTTATATCCAAATATACCTATTTCAAAGTGTATTTGTGAGGCCTGTTTTAG
CCTGTGTCTTTTGTATTGTGTGTTGCTAAAGAATTCTACTTTTAGTAGGCTAATCAACAATGAA
AGGGTTAGAAAATTGCTGTGGAACATCCAGGTGAACTTCAGGAAAGACAGTGAAAAATGGAAAA
CGTTGGAGCTTCTGTTGAGATAATCTTCATTAGGTATATATCTTAGGGATACAGCCTTTTCTTT
ATCTTATAGCAGGAAAAAAAAACTTTTGAGGGAAATAGAAGGGCTGCGTTACACAAAATAAACA
ATGGCATTGTCATAGGCCTTCCTTTTACTAGTAGGGCATAATGCTAGGGAATATGTGAAGATGT
TTTTATGAAGTCTCTTTCTGATCACGAACAATAGCTTGCGCTCTACTCTGTAGTTATGTGGATT
GCCGAGCAATGACCCTTTTCAATTTCTTATTTCTGTGTTACTGAGGACCCTAATCACTTAGGGA
TGTAATTTTATAGTATAAACTTTCTGTACAGTTTTTCTTATAGTCTAATAAGTAAAAAGTGTCC
TTCAAATTATGATAATTGCCTATGTACATGGATAAATTAAAACACTGCACACGGA

hide sequence

RefSeq Acc Id:

NR_110328

RefSeq Status:

VALIDATED

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	3	158,802,054 - 158,829,716 (+)	NCBI
HuRef	3	155,915,581 - 155,943,367 (+)	NCBI
CHM1_1	3	158,482,624 - 158,510,416 (+)	NCBI
T2T-CHM13v2.0	3	161,575,980 - 161,603,601 (+)	NCBI

Sequence:

show sequence

AGTCATGTGACCGCCGTCTTGACAGTGTTCCACGGGCGCTGCTTCCTGCCTGGGTTTGGAGTTG
TCACCACTTTCCCCTCTCCGTCTCCTGCGGGCGCAATGGAGGAGGAGGATGAGGAAGCGCGGGC
GCTCCTGGCAGGCGGCCCTGACGAGGCCGACAGAGGTGCCCCGGCCGCCCCTGGAGCCCTGCCG
GCCCTCTGCGACCCCAGTCGCCTGGCGCACCGGCTTTTGGTGCTGTTACTGATGTGCTTCCTTG
GCTTTGGCAGCTATTTTTGCTATGATAATCCTGCTGCCCTTCAGACTCAAGTTAAACGAATGGG
GCACAATCATTTTTAGCTGCTTTGTTTGCATTGGACAGGTTGTTTTTGCCCTGGGTGGAATATT
TAATGCTTTTTGGCTGATGGAATTTGGAAGATTTGTATTTGGGATTGGTGGCGAGTCCTTAGCA
GTTGCCCAGAATACATATGCTGTGAGCTGGTTTAAAGGCAAAGAATTAAACCTGGTGTTTGGAC
TTCAACTTAGCATGGCTAGAATTGGAAGTACAGTAAACATGAACCTCATGGGATGGCTGTATTC
TAAGATTGAAGCTTTGTTAGGTTCTGCTGGTCACACAACCCTCGGGATCACACTTATGATTGGG
GGTATAACGTGTATTCTTTCACTAATCTGTGCCTTGGCTCTTGCCTACTTGGATCAGAGAGCAG
AGAGAATCCTTCATAAAGAACAAGGAAAAACAGGTGAAGTTATTAAATTAACTGATGTAAAGGA
CTTCTCCTTACCCCTGTGGCTTATATTTATCATCTGTGTCTGCTATTATGTTGCTGTGTTCCCT
TTTATTGGACTTGGGAAAGTTTTCTTTACAGAGAAATTTGGATTTTCTTCCCAGGCAGCAAGTG
CAATTAACAGTGTTGTATATGTCATATCAGCTCCCATGTCCCCGGTGTTTGGGCTCCTGGTGGA
TAAAACAGGGAAGAACATCATCTGGGTTCTTTGCGCAGTAGCAGCCACTCTTGTGTCCCACATG
ATGCTGGCCTTTACGATGTGGAACCCTTGGATTGCTATGTGTCTTCTGGGACTCTCCTACTCAT
TGCTTGCCTGTGCATTGTGGCCAATGGTGGCATTTGTAGTTCCTGAACATCAGCTGGGAACTGC
ATATGGCTTCATGCAGTCCATTCAGAATCTTGGGTTGGCCATCATTTCCATCATTGCTGGTATG
ATACTGGATTCTCGGGGGTATTTGTTTTTGGAAGTGTTCTTCATTGCCTGTGTTTCTTAGACAG
GATTTGTCTCTGTCACCCAGACTGGAATGCAGTGGAGCAGTCACAGCTCAATGTAACTTTGAAC
TGCGGAGTTCAGGTGATCCTCCCACCTCAGCCTCCGTGATAGCTAAGACTACAGTGTCACTTTT
ATCTGTGGTCTTACTCTATTTGGTGAATCGTGCCCAGGGTGGGAACCTAAATTATTCTGCAAGA
CAAAGGGAAGAAATAAAATTTTCCCATACTGAATGAGAAGTTAAAATGAATGTGTCATGAGAAT
GGGCTTAACACATCGTTGGTTTGAAAACTTCCATTTTTAAAAATTTAGAGTTTAGTCATTAGAA
AAAATAATGGACTGGAAAGTTATATTTATATCCAAATATACCTATTTCAAAGTGTATTTGTGAG
GCCTGTTTTAGCCTGTGTCTTTTGTATTGTGTGTTGCTAAAGAATTCTACTTTTAGTAGGCTAA
TCAACAATGAAAGGGTTAGAAAATTGCTGTGGAACATCCAGGTGAACTTCAGGAAAGACAGTGA
AAAATGGAAAACGTTGGAGCTTCTGTTGAGATAATCTTCATTAGGTATATATCTTAGGGATACA
GCCTTTTCTTTATCTTATAGCAGGAAAAAAAAACTTTTGAGGGAAATAGAAGGGCTGCGTTACA
CAAAATAAACAATGGCATTGTCATAGGCCTTCCTTTTACTAGTAGGGCATAATGCTAGGGAATA
TGTGAAGATGTTTTTATGAAGTCTCTTTCTGATCACGAACAATAGCTTGCGCTCTACTCTGTAG
TTATGTGGATTGCCGAGCAATGACCCTTTTCAATTTCTTATTTCTGTGTTACTGAGGACCCTAA
TCACTTAGGGATGTAATTTTATAGTATAAACTTTCTGTACAGTTTTTCTTATAGTCTAATAAGT
AAAAAGTGTCCTTCAAATTATGATAATTGCCTATGTACATGGATAAATTAAAACACTGCACACG
GA

hide sequence

RefSeq Acc Id:

XM_006713730 ⟹ XP_006713793

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	3	158,802,054 - 158,827,341 (+)	NCBI

Sequence:

show sequence

CTCGCGGCCGCTCACATGGGCGTGGCCCTGCGTGACCTGCCGGGGCGTCACGTGAGCTCCCGGA
GTCATGTGACCGCCGTCTTGACAGTGTTCCACGGGCGCTGCTTCCTGCCTGGGTTTGGAGTTGT
CACCACTTTCCCCTCTCCGTCTCCTGCGGGCGCAATGGAGGAGGAGGATGAGGAAGCGCGGGCG
CTCCTGGCAGGCGGCCCTGACGAGGCCGACAGAGGTGCCCCGGCCGCCCCTGGAGCCCTGCCGG
CCCTCTGCGACCCCAGTCGCCTGGCGCACCGGCTTTTGGTGCTGTTACTGATGTGCTTCCTTGG
CTTTGCTATTTTTGCTATGATAATCCTGCTGCCCTTCAGACTCAAGTTAAACGAATGGGGCACA
ATCATTTTTAGCTGCTTTGTTTGCATTGGACAGGTTGTTTTTGCCCTGGGTGGAATATTTAATG
CTTTTTGGCTGATGGAATTTGGAAGATTTGTATTTGGGATTGGTGGCGAGTCCTTAGCAGTTGC
CCAGAATACATATGCTGTGAGCTGGTTTAAAGGCAAAGAATTAAACCTGGTGTTTGGACTTCAA
CTTAGCATGGCTAGAATTGGAAGTACAGTAAACATGAACCTCATGGGATGGCTGTATTCTAAGA
TTGAAGCTTTGTTAGGTTCTGCTGGTCACACAACCCTCGGGATCACACTTATGATTGGGGGTAT
AACGTGTATTCTTTCACTAATCTGTGCCTTGGCTCTTGCCTACTTGGATCAGAGAGCAGAGAGA
ATCCTTCATAAAGAACAAGGAAAAACAGGTGAAGTTATTAAATTAACTGATGTAAAGGACTTCT
CCTTACCCCTGTGGCTTATATTTATCATCTGTGTCTGCTATTATGTTGCTGTGTTCCCTTTTAT
TGGACTTGGGAAAGTTTTCTTTACAGAGAAATTTGGATTTTCTTCCCAGGCAGCAAGTGCAATT
AACAGTGTTGTATATGTCATATCAGCTCCCATGTCCCCGGTGTTTGGGCTCCTGGTGGATAAAA
CAGGGAAGAACATCATCTGGGTTCTTTGCGCAGTAGCAGCCACTCTTGTGTCCCACATGATGCT
GGCCTTTACGATGTGGAACCCTTGGATTGCTATGTGTCTTCTGGGACTCTCCTACTCATTGCTT
GCCTGTGCATTGTGGCCAATGGTGGCATTTGTAGTTCCTGAACATCAGCTGGGAACTGCATATG
GCTTCATGCAGTCCATTCAGAATCTTGGGTTGGCCATCATTTCCATCATTGCTGGTATGATACT
GGATTCTCGGGGGTATTTGTTTTTGGAAGTGTTCTTCATTGCCTGTGTTTCTTTGTCACTTTTA
TCTGTGGTCTTACTCTATTTGGTGAATCGTGCCCAGGGTGGGAACCTAAATTATTCTGCAAGAC
AAAGGGAAGAAATAAAATTTTCCCATACTGAGTAA

hide sequence

RefSeq Acc Id:

XM_047448732 ⟹ XP_047304688

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	3	158,802,054 - 158,823,525 (+)	NCBI

RefSeq Acc Id:

XM_047448733 ⟹ XP_047304689

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	3	158,802,054 - 158,827,344 (+)	NCBI

RefSeq Acc Id:

XM_054347567 ⟹ XP_054203542

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	3	161,575,980 - 161,597,445 (+)	NCBI

RefSeq Acc Id:

XM_054347568 ⟹ XP_054203543

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	3	161,575,980 - 161,601,261 (+)	NCBI

RefSeq Acc Id:

XM_054347569 ⟹ XP_054203544

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	3	161,575,980 - 161,601,261 (+)	NCBI

Protein Sequences


Protein RefSeqs	NP_001161375	(Get FASTA)	NCBI Sequence Viewer
	NP_001276335	(Get FASTA)	NCBI Sequence Viewer
	NP_001276336	(Get FASTA)	NCBI Sequence Viewer
	NP_073573	(Get FASTA)	NCBI Sequence Viewer
	XP_006713793	(Get FASTA)	NCBI Sequence Viewer
	XP_047304688	(Get FASTA)	NCBI Sequence Viewer
	XP_047304689	(Get FASTA)	NCBI Sequence Viewer
	XP_054203542	(Get FASTA)	NCBI Sequence Viewer
	XP_054203543	(Get FASTA)	NCBI Sequence Viewer
	XP_054203544	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH30542	(Get FASTA)	NCBI Sequence Viewer
	AAH42197	(Get FASTA)	NCBI Sequence Viewer
	AAN76517	(Get FASTA)	NCBI Sequence Viewer
	BAB14852	(Get FASTA)	NCBI Sequence Viewer
	BAB20269	(Get FASTA)	NCBI Sequence Viewer
	BAG57809	(Get FASTA)	NCBI Sequence Viewer
	BAG59562	(Get FASTA)	NCBI Sequence Viewer
	BAG59980	(Get FASTA)	NCBI Sequence Viewer
	BAG62211	(Get FASTA)	NCBI Sequence Viewer
	BAG63153	(Get FASTA)	NCBI Sequence Viewer
	CAC51171	(Get FASTA)	NCBI Sequence Viewer
	EAW78672	(Get FASTA)	NCBI Sequence Viewer
	EAW78673	(Get FASTA)	NCBI Sequence Viewer
	EAW78674	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000264266.5
	ENSP00000376560.4
	ENSP00000403117
	ENSP00000403117.3
	ENSP00000417163.1
	ENSP00000417414.1
	ENSP00000417950.2
	ENSP00000418055.1
	ENSP00000418503.1
	ENSP00000419281.2
	ENSP00000419467.2
	ENSP00000419708.2
	ENSP00000420699.1
	ENSP00000420816.1
	ENSP00000484175.1
	ENSP00000498818
	ENSP00000498818.1
GenBank Protein	Q9H3U5	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_073573 ⟸ NM_022736
- Peptide Label:	isoform 1
- UniProtKB:	Q9H3U5 (UniProtKB/Swiss-Prot), Q8IXG4 (UniProtKB/Swiss-Prot), Q8IVS1 (UniProtKB/Swiss-Prot), Q5XKJ1 (UniProtKB/Swiss-Prot), Q05C07 (UniProtKB/Swiss-Prot), J3KQL7 (UniProtKB/Swiss-Prot), C9JS94 (UniProtKB/Swiss-Prot), B4DWU1 (UniProtKB/Swiss-Prot), B4DU49 (UniProtKB/Swiss-Prot), B4DMR8 (UniProtKB/Swiss-Prot), B4DGJ8 (UniProtKB/Swiss-Prot), Q9H7X1 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MGVALRDLPGRHVSSRSHVTAVLTVFHGRCFLPGFGVVTTFPSPSPAGAMEEEDEEARALLAGG PDEADRGAPAAPGALPALCDPSRLAHRLLVLLLMCFLGFGSYFCYDNPAALQTQVKRDMQVNTT KFMLLYAWYSWPNVVLCFFGGFLIDRVFGIRWGTIIFSCFVCIGQVVFALGGIFNAFWLMEFGR FVFGIGGESLAVAQNTYAVSWFKGKELNLVFGLQLSMARIGSTVNMNLMGWLYSKIEALLGSAG HTTLGITLMIGGITCILSLICALALAYLDQRAERILHKEQGKTGEVIKLTDVKDFSLPLWLIFI ICVCYYVAVFPFIGLGKVFFTEKFGFSSQAASAINSVVYVISAPMSPVFGLLVDKTGKNIIWVL CAVAATLVSHMMLAFTMWNPWIAMCLLGLSYSLLACALWPMVAFVVPEHQLGTAYGFMQSIQNL GLAIISIIAGMILDSRGYLFLEVFFIACVSLSLLSVVLLYLVNRAQGGNLNYSARQREEIKFSH TE hide sequence

RefSeq Acc Id:	NP_001161375 ⟸ NM_001167903
- Peptide Label:	isoform 2
- UniProtKB:	A0A494C105 (UniProtKB/TrEMBL)
- Sequence:	show sequence MGVALRDLPGRHVSSRSHVTAVLTVFHGRCFLPGFGVVTTFPSPSPAGAMEEEDEEARALLAGG PDEADRGAPAAPGALPALCDPSRLAHRLLVLLLMCFLGFAIFAMIILLPFRLKLNEWGTIIFSC FVCIGQVVFALGGIFNAFWLMEFGRFVFGIGGESLAVAQNTYAVSWFKGKELNLVFGLQLSMAR IGSTVNMNLMGWLYSKIEALLGSAGHTTLGITLMIGGITCILSLICALALAYLDQRAERILHKE QGKTGEVIKLTDVKDFSLPLWLIFIICVCYYVAVFPFIGLGKVFFTEKFGFSSQAASAINSVVY VISAPMSPVFGLLVDKTGKNIIWVLCAVAATLVSHMMLAFTMWNPWIAMCLLGLSYSLLACALW PMVAFVVPEHQLGTAYGFMQSIQNLGLAIISIIAGMILDSRGYLFLEVFFIACVSLSLLSVVLL YLVNRAQGGNLNYSARQREEIKFSHTE hide sequence

RefSeq Acc Id:	NP_001276335 ⟸ NM_001289406
- Peptide Label:	isoform 3
- UniProtKB:	Q9H3U5 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MIILLPFRLKLNEWGTIIFSCFVCIGQVVFALGGIFNAFWLMEFGRFVFGIGGESLAVAQNTYA VSWFKGKELNLVFGLQLSMARIGSTVNMNLMGWLYSKIEALLGSAGHTTLGITLMIGGITCILS LICALALAYLDQRAERILHKEQGKTGEVIKLTDVKDFSLPLWLIFIICVCYYVAVFPFIGLGKV FFTEKFGFSSQAASAINSVVYVISAPMSPVFGLLVDKTGKNIIWVLCAVAATLVSHMMLAFTMW NPWIAMCLLGLSYSLLACALWPMVAFVVPEHQLGTAYGFMQSIQNLGLAIISIIAGMILDSRGY LFLEVFFIACVSLSLLSVVLLYLVNRAQGGNLNYSARQREEIKFSHTE hide sequence

RefSeq Acc Id:	NP_001276336 ⟸ NM_001289407
- Peptide Label:	isoform 4
- UniProtKB:	Q9H3U5 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MQVNTTKFMLLYAWYSWPNVVLCFFGGFLIDRVFGIRWGTIIFSCFVCIGQVVFALGGIFNAFW LMEFGRFVFGIGGESLAVAQNTYAVSWFKGKELNLVFGLQLSMARIGSTVNMNLMGWLYSKIEA LLGSAGHTTLGITLMIGGITCILSLICALALAYLDQRAERILHKEQGKTGEVIKLTDVKDFSLP LWLIFIICVCYYVAVFPFIGLGKVFFTEKFGFSSQAASAINSVVYVISAPMSPVFGLLVDKTGK NIIWVLCAVAATLVSHMMLAFTMWNPWIAMCLLGLSYSLLACALWPMVAFVVPEHQLGTAYGFM QSIQNLGLAIISIIAGMILDSRGYLFLEVFFIACVSLSLLSVVLLYLVNRAQGGNLNYSARQRE EIKFSHTE hide sequence

RefSeq Acc Id:	XP_006713793 ⟸ XM_006713730
- Peptide Label:	isoform X3
- UniProtKB:	A0A494C105 (UniProtKB/TrEMBL)
- Sequence:	show sequence MGVALRDLPGRHVSSRSHVTAVLTVFHGRCFLPGFGVVTTFPSPSPAGAMEEEDEEARALLAGG PDEADRGAPAAPGALPALCDPSRLAHRLLVLLLMCFLGFAIFAMIILLPFRLKLNEWGTIIFSC FVCIGQVVFALGGIFNAFWLMEFGRFVFGIGGESLAVAQNTYAVSWFKGKELNLVFGLQLSMAR IGSTVNMNLMGWLYSKIEALLGSAGHTTLGITLMIGGITCILSLICALALAYLDQRAERILHKE QGKTGEVIKLTDVKDFSLPLWLIFIICVCYYVAVFPFIGLGKVFFTEKFGFSSQAASAINSVVY VISAPMSPVFGLLVDKTGKNIIWVLCAVAATLVSHMMLAFTMWNPWIAMCLLGLSYSLLACALW PMVAFVVPEHQLGTAYGFMQSIQNLGLAIISIIAGMILDSRGYLFLEVFFIACVSLSLLSVVLL YLVNRAQGGNLNYSARQREEIKFSHTE hide sequence

RefSeq Acc Id:

ENSP00000417163 ⟸ ENST00000477743

RefSeq Acc Id:

ENSP00000418055 ⟸ ENST00000465739

RefSeq Acc Id:

ENSP00000484175 ⟸ ENST00000622669

RefSeq Acc Id:

ENSP00000420699 ⟸ ENST00000491804

RefSeq Acc Id:

ENSP00000403117 ⟸ ENST00000415822

RefSeq Acc Id:

ENSP00000498818 ⟸ ENST00000651862

RefSeq Acc Id:

ENSP00000419467 ⟸ ENST00000480292

RefSeq Acc Id:

ENSP00000418503 ⟸ ENST00000482835

RefSeq Acc Id:

ENSP00000417950 ⟸ ENST00000484166

RefSeq Acc Id:

ENSP00000376560 ⟸ ENST00000392813

RefSeq Acc Id:

ENSP00000420816 ⟸ ENST00000471500

RefSeq Acc Id:

ENSP00000419281 ⟸ ENST00000471266

RefSeq Acc Id:

ENSP00000417414 ⟸ ENST00000486568

RefSeq Acc Id:

ENSP00000264266 ⟸ ENST00000264266

RefSeq Acc Id:

ENSP00000419708 ⟸ ENST00000474670

RefSeq Acc Id:	XP_047304689 ⟸ XM_047448733
- Peptide Label:	isoform X2

RefSeq Acc Id:	XP_047304688 ⟸ XM_047448732
- Peptide Label:	isoform X1

RefSeq Acc Id:	XP_054203543 ⟸ XM_054347568
- Peptide Label:	isoform X2

RefSeq Acc Id:	XP_054203544 ⟸ XM_054347569
- Peptide Label:	isoform X3

RefSeq Acc Id:	XP_054203542 ⟸ XM_054347567
- Peptide Label:	isoform X1

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q9H3U5-F1-model_v2	AlphaFold	Q9H3U5	1-465	view protein structure

Promoters

RGD ID:

6866126

Promoter ID:

EPDNEW_H6228

Type:

multiple initiation site

Name:

MFSD1_2

Description:

major facilitator superfamily domain containing 1

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Alternative Promoters:

null; see alsoEPDNEW_H6229

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	3	158,801,798 - 158,801,858	EPDNEW

RGD ID:

6866128

Promoter ID:

EPDNEW_H6229

Type:

initiation region

Name:

MFSD1_1

Description:

major facilitator superfamily domain containing 1

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Alternative Promoters:

null; see alsoEPDNEW_H6228

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	3	158,802,087 - 158,802,147	EPDNEW

RGD ID:

6800938

Promoter ID:

HG_KWN:46572

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, HeLa_S3, K562, Lymphoblastoid, NB4

Transcripts:

ENST00000361159, ENST00000392813, NM_001167903, NM_022736, UC003FCM.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	3	160,002,211 - 160,002,711 (+)	MPROMDB

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:25874	AgrOrtholog
COSMIC	MFSD1	COSMIC
Ensembl Genes	ENSG00000118855	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000264266.12	UniProtKB/Swiss-Prot
	ENST00000392813.8	UniProtKB/Swiss-Prot
	ENST00000415822	ENTREZGENE
	ENST00000415822.8	UniProtKB/Swiss-Prot
	ENST00000465739.5	UniProtKB/TrEMBL
	ENST00000471266.5	UniProtKB/TrEMBL
	ENST00000471500.5	UniProtKB/TrEMBL
	ENST00000474670.6	UniProtKB/TrEMBL
	ENST00000477743.1	UniProtKB/TrEMBL
	ENST00000480292	ENTREZGENE
	ENST00000480292.5	UniProtKB/Swiss-Prot
	ENST00000482835.1	UniProtKB/TrEMBL
	ENST00000484166.5	UniProtKB/Swiss-Prot
	ENST00000486568.5	UniProtKB/TrEMBL
	ENST00000491804.1	UniProtKB/TrEMBL
	ENST00000622669.4	UniProtKB/Swiss-Prot
	ENST00000651862	ENTREZGENE
	ENST00000651862.1	UniProtKB/TrEMBL
Gene3D-CATH	1.20.1250.20	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000118855	GTEx
HGNC ID	HGNC:25874	ENTREZGENE
Human Proteome Map	MFSD1	Human Proteome Map
InterPro	MFS	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	MFS_dom	UniProtKB/Swiss-Prot
	MFS_trans_sf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:64747	UniProtKB/Swiss-Prot
NCBI Gene	64747	ENTREZGENE
OMIM	619976	OMIM
PANTHER	MAJOR FACILITATOR SUPERFAMILY DOMAIN-CONTAINING PROTEIN 1	UniProtKB/Swiss-Prot
	MAJOR FACILITATOR SUPERFAMILY DOMAIN-CONTAINING PROTEIN 1	UniProtKB/Swiss-Prot
	MAJOR FACILITATOR SUPERFAMILY DOMAIN-CONTAINING PROTEIN 1	UniProtKB/TrEMBL
	MAJOR FACILITATOR SUPERFAMILY DOMAIN-CONTAINING PROTEIN 1	UniProtKB/TrEMBL
Pfam	MFS_1	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA134947356	PharmGKB
PROSITE	MFS	UniProtKB/Swiss-Prot
Superfamily-SCOP	SSF103473	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt	A0A494C105	ENTREZGENE, UniProtKB/TrEMBL
	B4DGJ8	ENTREZGENE
	B4DMR8	ENTREZGENE
	B4DU49	ENTREZGENE
	B4DWU1	ENTREZGENE
	C9J5G6_HUMAN	UniProtKB/TrEMBL
	C9JAC3_HUMAN	UniProtKB/TrEMBL
	C9JBA3_HUMAN	UniProtKB/TrEMBL
	C9JCH3_HUMAN	UniProtKB/TrEMBL
	C9JS94	ENTREZGENE
	C9JZW5_HUMAN	UniProtKB/TrEMBL
	H7C4F4_HUMAN	UniProtKB/TrEMBL
	H7C593_HUMAN	UniProtKB/TrEMBL
	H7C5U3_HUMAN	UniProtKB/TrEMBL
	J3KQL7	ENTREZGENE
	MFSD1_HUMAN	UniProtKB/Swiss-Prot
	Q05C07	ENTREZGENE
	Q5XKJ1	ENTREZGENE
	Q8IVS1	ENTREZGENE
	Q8IXG4	ENTREZGENE
	Q9H3U5	ENTREZGENE
	Q9H7X1	ENTREZGENE
UniProt Secondary	B4DGJ8	UniProtKB/Swiss-Prot
	B4DMR8	UniProtKB/Swiss-Prot
	B4DU49	UniProtKB/Swiss-Prot
	B4DWU1	UniProtKB/Swiss-Prot
	C9JS94	UniProtKB/Swiss-Prot
	J3KQL7	UniProtKB/Swiss-Prot
	Q05C07	UniProtKB/Swiss-Prot
	Q5XKJ1	UniProtKB/Swiss-Prot
	Q8IVS1	UniProtKB/Swiss-Prot
	Q8IXG4	UniProtKB/Swiss-Prot
	Q9H7X1	UniProtKB/Swiss-Prot

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Send us a Message

Imported Disease Annotations - ClinVar