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Gene: SFMBT1 (Scm like with four mbt domains 1) Homo sapiens

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Symbol:

SFMBT1

Name:

Scm like with four mbt domains 1

RGD ID:

1343140

HGNC Page

HGNC:20255

Description:

Enables histone binding activity. Involved in negative regulation of DNA-templated transcription and negative regulation of muscle organ development. Located in nucleoplasm.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

DKFZp434L243; hSFMBT; renal ubiquitous protein 1; RU1; Scm-like with four mbt domains 1; scm-like with four MBT domains protein 1; Scm-related gene containing four mbt domains; Scm-related gene product containing four mbt domains; SFMBT

RGD Orthologs

Alliance Orthologs

More Info

more info ...

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	52,903,572 - 53,046,073 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	3	52,903,572 - 53,046,750 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	3	52,937,588 - 53,080,089 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	3	52,913,667 - 53,055,110 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	3	52,913,667 - 53,055,110	NCBI
Celera	3	52,916,400 - 53,047,177 (-)	NCBI		Celera
Cytogenetic Map	3	p21.1	NCBI
HuRef	3	52,999,200 - 53,129,628 (-)	NCBI		HuRef
CHM1_1	3	52,889,772 - 53,031,734 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	3	52,936,457 - 53,078,977 (-)	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

congenital disorder of glycosylation In (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

(-)-epigallocatechin 3-gallate (EXP)

(1->4)-beta-D-glucan (ISO)

1,2-dimethylhydrazine (ISO)

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

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

3,3',4,4',5-pentachlorobiphenyl (ISO)

3,4-methylenedioxymethamphetamine (ISO)

3-isobutyl-1-methyl-7H-xanthine (EXP)

4,4'-diaminodiphenylmethane (ISO)

7,9-dihydro-1H-purine-2,6,8(3H)-trione (EXP)

acrylamide (EXP)

aflatoxin B1 (EXP,ISO)

Aflatoxin B2 alpha (EXP)

ammonium chloride (ISO)

amphetamine (ISO)

aristolochic acid A (EXP)

arsane (EXP)

arsenic atom (EXP)

atrazine (ISO)

benzo[a]pyrene (EXP,ISO)

benzo[e]pyrene (EXP)

bisphenol A (EXP,ISO)

bisphenol F (EXP)

cadmium dichloride (EXP)

caffeine (EXP)

CGP 52608 (EXP)

ciguatoxin CTX1B (ISO)

cisplatin (EXP)

coumarin (EXP)

dexamethasone (EXP)

Dibutyl phosphate (EXP)

dibutyl phthalate (ISO)

dioxygen (EXP)

disodium selenite (EXP)

dorsomorphin (EXP)

folic acid (ISO)

indometacin (EXP)

methapyrilene (EXP)

methyl methanesulfonate (EXP)

methylmercury chloride (EXP)

panobinostat (EXP)

paracetamol (ISO)

perfluorooctane-1-sulfonic acid (ISO)

phenobarbital (ISO)

phenylmercury acetate (EXP)

potassium chromate (EXP)

pregnenolone 16alpha-carbonitrile (ISO)

propiconazole (ISO)

SB 431542 (EXP)

sodium arsenate (EXP)

sodium arsenite (EXP,ISO)

sunitinib (EXP)

titanium dioxide (ISO)

triphenyl phosphate (EXP)

triptonide (ISO)

troglitazone (ISO)

valdecoxib (ISO)

valproic acid (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

cell differentiation (IEA)

chromatin organization (IEA)

negative regulation of DNA-templated transcription (IBA,IDA,IMP)

negative regulation of muscle organ development (IMP)

regulation of DNA-templated transcription (IEA)

spermatogenesis (IEA)

Cellular Component

nucleoplasm (IDA)

nucleus (IBA,IDA,IEA)

Molecular Function

chromatin binding (IBA)

histone binding (IBA,IDA,IEA)

protein binding (IPI)

transcription corepressor activity (IEA,TAS)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Esophageal atresia (IAGP)

References

References - curated

#	Reference Title	Reference Citation
1.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
2.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

Additional References at PubMed

PMID:10661410	PMID:12477932	PMID:15489334	PMID:16189514	PMID:16344560	PMID:17599839	PMID:21325761	PMID:21873635	PMID:21926972	PMID:21988832	PMID:22479346	PMID:23128233
PMID:23263486	PMID:23349461	PMID:23592795	PMID:23602568	PMID:23898208	PMID:23928305	PMID:23974872	PMID:24981860	PMID:25416956	PMID:25593309	PMID:25609649	PMID:25814554
PMID:26496610	PMID:27705803	PMID:27861535	PMID:28514442	PMID:28789618	PMID:29886071	PMID:30631154	PMID:30804502	PMID:32023483	PMID:32296183	PMID:32707033	PMID:32891193
PMID:33481017	PMID:33961781	PMID:34079125	PMID:34709266	PMID:34978167	PMID:35331737	PMID:35844135	PMID:36129980

Genomics

Comparative Map Data

SFMBT1
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	3	52,903,572 - 53,046,073 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	3	52,903,572 - 53,046,750 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	3	52,937,588 - 53,080,089 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	3	52,913,667 - 53,055,110 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	3	52,913,667 - 53,055,110	NCBI
Celera	3	52,916,400 - 53,047,177 (-)	NCBI		Celera
Cytogenetic Map	3	p21.1	NCBI
HuRef	3	52,999,200 - 53,129,628 (-)	NCBI		HuRef
CHM1_1	3	52,889,772 - 53,031,734 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	3	52,936,457 - 53,078,977 (-)	NCBI		T2T-CHM13v2.0

Sfmbt1
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	14	30,436,806 - 30,544,678 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	14	30,436,806 - 30,544,678 (+)	Ensembl		GRCm39 Ensembl
GRCm38	14	30,714,849 - 30,822,721 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	14	30,714,849 - 30,822,721 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	14	31,528,035 - 31,635,907 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	14	29,595,009 - 29,646,972 (+)	NCBI		MGSCv36	mm8
Celera	14	26,972,255 - 27,079,725 (+)	NCBI		Celera
Cytogenetic Map	14	B	NCBI
cM Map	14	18.99	NCBI

Sfmbt1
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	16	5,896,686 - 6,016,311 (+)	NCBI		GRCr8
mRatBN7.2	16	5,889,046 - 6,009,860 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	16	5,890,782 - 6,006,605 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	16	5,903,220 - 6,017,256 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	16	7,048,672 - 7,162,718 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	16	5,901,842 - 6,023,496 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	16	6,775,648 - 6,896,155 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	16	6,779,281 - 6,895,299 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	16	6,705,856 - 6,825,699 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	16	6,124,155 - 6,241,008 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	16	6,185,489 - 6,241,002 (+)	NCBI
Celera	16	9,184,923 - 9,236,952 (-)	NCBI		Celera
Cytogenetic Map	16	p16	NCBI

Sfmbt1
(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_004955430	2,856,054 - 2,915,517 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955430	2,850,149 - 3,014,859 (-)	NCBI	ChiLan1.0	ChiLan1.0

SFMBT1
(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	52,899,440 - 53,045,144 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	3	52,904,212 - 53,049,915 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	3	52,841,693 - 52,991,613 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	3	54,071,144 - 54,215,061 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	3	54,071,144 - 54,138,538 (-)	Ensembl	panpan1.1		panPan2

SFMBT1
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	20	36,853,108 - 36,978,306 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	20	36,921,566 - 36,972,675 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	20	36,788,231 - 36,914,516 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	20	37,130,153 - 37,256,719 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	20	37,183,169 - 37,251,023 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	20	36,567,757 - 36,687,554 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	20	36,928,798 - 37,055,250 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	20	37,207,224 - 37,327,384 (+)	NCBI		UU_Cfam_GSD_1.0

Sfmbt1
(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_024405118	170,511,523 - 170,644,846 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936473	3,654,555 - 3,781,577 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936473	3,650,096 - 3,784,191 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

SFMBT1
(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	35,025,769 - 35,180,042 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	13	35,020,627 - 35,181,074 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	13	38,213,183 - 38,314,039 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

SFMBT1
(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	22	14,285,362 - 14,439,624 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	22	14,290,494 - 14,438,192 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666041	152,456,991 - 152,611,732 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Sfmbt1
(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 1.0	NW_004624822	4,160,661 - 4,328,058 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in SFMBT1
32 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 3p21.31-14.3(chr3:49461000-55314500)x1	copy number loss	See cases [RCV000051511]	Chr3:49461000..55314500 [GRCh38] Chr3:49498433..55348528 [GRCh37] Chr3:49473437..55323568 [NCBI36] Chr3:3p21.31-14.3	pathogenic
NM_016329.3(SFMBT1):c.1797C>T (p.Phe599=)	single nucleotide variant	Malignant melanoma [RCV000066149]	Chr3:52911112 [GRCh38] Chr3:52945128 [GRCh37] Chr3:52920168 [NCBI36] Chr3:3p21.1	not provided
GRCh38/hg38 3p21.2-14.3(chr3:51394434-55064449)x1	copy number loss	See cases [RCV000143631]	Chr3:51394434..55064449 [GRCh38] Chr3:51431865..55098476 [GRCh37] Chr3:51406905..55073516 [NCBI36] Chr3:3p21.2-14.3	likely pathogenic
NM_016329.4(SFMBT1):c.-130-31769_-130-30020del	deletion	Large for gestational age [RCV000161276]\|Normal pregnancy [RCV000161275]\|Preeclampsia [RCV000161277]	Chr3:52999278..53001027 [GRCh38] Chr3:53033294..53035043 [GRCh37] Chr3:3p21.1	not provided
GRCh37/hg19 3p21.2-14.2(chr3:52086599-59689209)x1	copy number loss	See cases [RCV000239886]	Chr3:52086599..59689209 [GRCh37] Chr3:3p21.2-14.2	pathogenic
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 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 3p21.1(chr3:53024022-53038983)x1	copy number loss	not provided [RCV000742410]	Chr3:53024022..53038983 [GRCh37] Chr3:3p21.1	benign
GRCh37/hg19 3p21.1(chr3:53024022-53096394)x1	copy number loss	not provided [RCV000742411]	Chr3:53024022..53096394 [GRCh37] Chr3:3p21.1	benign
GRCh37/hg19 3p21.1(chr3:53046763-53047469)x1	copy number loss	not provided [RCV000742412]	Chr3:53046763..53047469 [GRCh37] Chr3:3p21.1	benign
NM_016329.4(SFMBT1):c.462T>C (p.Asn154=)	single nucleotide variant	not provided [RCV000966872]	Chr3:52932300 [GRCh38] Chr3:52966316 [GRCh37] Chr3:3p21.1	benign
NM_016329.4(SFMBT1):c.2005A>T (p.Lys669Ter)	single nucleotide variant	Esophageal atresia [RCV000984677]	Chr3:52907635 [GRCh38] Chr3:52941651 [GRCh37] Chr3:3p21.1	uncertain significance
NM_016329.4(SFMBT1):c.999C>T (p.Phe333=)	single nucleotide variant	not provided [RCV000948649]	Chr3:52928240 [GRCh38] Chr3:52962256 [GRCh37] Chr3:3p21.1	benign
GRCh37/hg19 3p21.31-21.1(chr3:45153770-53878616)	copy number gain	not provided [RCV000767704]	Chr3:45153770..53878616 [GRCh37] Chr3:3p21.31-21.1	pathogenic
GRCh37/hg19 3p21.2-21.1(chr3:51247306-53069942)x3	copy number gain	not provided [RCV001005434]	Chr3:51247306..53069942 [GRCh37] Chr3:3p21.2-21.1	uncertain significance
NM_016329.4(SFMBT1):c.1360C>T (p.Arg454Cys)	single nucleotide variant	not provided [RCV000949697]	Chr3:52920549 [GRCh38] Chr3:52954565 [GRCh37] Chr3:3p21.1	benign
NM_016329.4(SFMBT1):c.819T>C (p.His273=)	single nucleotide variant	not provided [RCV000949698]	Chr3:52930407 [GRCh38] Chr3:52964423 [GRCh37] Chr3:3p21.1	benign
NM_016329.4(SFMBT1):c.941G>T (p.Arg314Leu)	single nucleotide variant	not provided [RCV000956105]	Chr3:52928298 [GRCh38] Chr3:52962314 [GRCh37] Chr3:3p21.1	benign
GRCh37/hg19 3p21.1(chr3:52783975-53418893)x3	copy number gain	not provided [RCV002473863]	Chr3:52783975..53418893 [GRCh37] Chr3:3p21.1	uncertain significance
GRCh37/hg19 3p21.1(chr3:52780509-53418869)x3	copy number gain	not provided [RCV002473850]	Chr3:52780509..53418869 [GRCh37] Chr3:3p21.1	uncertain significance
NC_000003.11:g.(?_52018081)_(53845433_?)del	deletion	not provided [RCV003105312]	Chr3:52018081..53845433 [GRCh37] Chr3:3p21.2-21.1	uncertain significance
GRCh37/hg19 3p21.1(chr3:52968525-53450333)	copy number gain	not specified [RCV002053351]	Chr3:52968525..53450333 [GRCh37] Chr3:3p21.1	uncertain significance
NC_000003.11:g.(?_52109903)_(53164416_?)del	deletion	RFT1-congenital disorder of glycosylation [RCV003122979]	Chr3:52109903..53164416 [GRCh37] Chr3:3p21.2-21.1	uncertain significance
NM_016329.4(SFMBT1):c.1440C>T (p.His480=)	single nucleotide variant	not provided [RCV003433631]	Chr3:52916190 [GRCh38] Chr3:52950206 [GRCh37] Chr3:3p21.1	likely benign
GRCh37/hg19 3p21.2-14.2(chr3:51149374-59265315)x1	copy number loss	not specified [RCV003986409]	Chr3:51149374..59265315 [GRCh37] Chr3:3p21.2-14.2	pathogenic

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	2089
Count of miRNA genes:	871
Interacting mature miRNAs:	999
Transcripts:	ENST00000296295, ENST00000358080, ENST00000394750, ENST00000394752, ENST00000470575, ENST00000474837, ENST00000482396, ENST00000483069, ENST00000485494, ENST00000492146, ENST00000497586
Prediction methods:	Microtar, Miranda, Rnahybrid, Targetscan
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.

QTLs in Region (GRCh38)

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
407296454	GWAS945430_H	BMI-adjusted waist circumference QTL GWAS945430 (human)		4e-10	BMI-adjusted waist circumference		3	53025479	53025480	Human
1298487	BFD1_H	Body fluid distribution QTL 1 (human)	3.94		Body fluid distribution	impedance ratio	3	36380712	62380712	Human
1298489	RA4_H	Rheumatoid arthritis QTL 4 (human)		0.0283	Joint/bone inflammation	rheumatoid arthritis	3	36380712	62380712	Human
1643509	BW293_H	Body Weight QTL 293 (human)	1.42		Body weight	BMI	3	36380712	62380712	Human
407146153	GWAS795129_H	ulcerative colitis QTL GWAS795129 (human)		1e-08	ulcerative colitis		3	53028645	53028646	Human
2289308	BW392_H	Body weight QTL 392 (human)	1.42		Body weight	BMI	3	36380712	62380712	Human
1331643	COPD16_H	Chronic obstructive pulmonary disease QTL 16 (human)	1.07		Chronic airflow obstruction	post-BD FEV1 minus pre-BD FEV1/pre-BD FEV1 x 100	3	49380651	75380651	Human

Markers in Region

SHGC-81462

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	3	53,003,188 - 53,003,463	UniSTS	GRCh37
Build 36	3	52,978,228 - 52,978,503	RGD	NCBI36
Celera	3	52,982,008 - 52,982,283	RGD
Cytogenetic Map	3	p21.1	UniSTS
HuRef	3	53,064,509 - 53,064,784	UniSTS
TNG Radiation Hybrid Map	3	32878.0	UniSTS

RH123971

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	3	52,955,245 - 52,955,569	UniSTS	GRCh37
Build 36	3	52,930,285 - 52,930,609	RGD	NCBI36
Celera	3	52,934,060 - 52,934,384	RGD
Cytogenetic Map	3	p21.1	UniSTS
HuRef	3	53,016,846 - 53,017,170	UniSTS
TNG Radiation Hybrid Map	3	32908.0	UniSTS

RH46044

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	3	53,052,900 - 53,053,022	UniSTS	GRCh37
Build 36	3	53,027,940 - 53,028,062	RGD	NCBI36
Celera	3	53,019,996 - 53,020,118	RGD
Cytogenetic Map	3	p21.1	UniSTS
HuRef	3	53,102,854 - 53,102,976	UniSTS
GeneMap99-GB4 RH Map	3	164.74	UniSTS

SFMBT1_9721

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	3	52,938,538 - 52,939,245	UniSTS	GRCh37
Build 36	3	52,913,578 - 52,914,285	RGD	NCBI36
Celera	3	52,917,355 - 52,918,062	RGD
HuRef	3	53,000,155 - 53,000,862	UniSTS

D3S4223

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	3	52,938,498 - 52,938,636	UniSTS	GRCh37
Build 36	3	52,913,538 - 52,913,676	RGD	NCBI36
Celera	3	52,917,315 - 52,917,453	RGD
Cytogenetic Map	3	p21.1	UniSTS
HuRef	3	53,000,115 - 53,000,253	UniSTS

MARC_10469-10470:999704456:1

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	3	52,964,364 - 52,965,032	UniSTS	GRCh37
Celera	3	52,943,166 - 52,943,834	UniSTS
HuRef	3	53,025,944 - 53,026,612	UniSTS

Expression

RNA-SEQ Expression

Click on a value in the shaded box below the category label to view a detailed expression data table for that system.

Download All Expressed Objects for this Gene

adipose tissue	alimentary part of gastrointestinal system	appendage	circulatory system	ectoderm	endocrine system	endoderm	entire extraembryonic component	exocrine system	hemolymphoid system	hepatobiliary system	integumental system	mesenchyme	mesoderm	musculoskeletal system	nervous system	pharyngeal arch	renal system	reproductive system	respiratory system	sensory system	visual system
1204	2439	2788	2253	4973	1726	2351	6	624	1947	465	2269	7302	6468	53	3734	1	852	1744	1617	175	1

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_016329	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AB189472	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC096887	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC099667	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC103589	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF168132	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AI206996	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK313965	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL080140	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL523328	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC014614	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BG717319	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BG723139	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BM560104	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BU553665	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471055	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068275	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CR981845	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DB064119	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DB070525	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DB081417	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DB085221	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000394752 ⟹ ENSP00000378235

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	52,903,572 - 53,046,073 (-)	Ensembl

Ensembl Acc Id:

ENST00000470575

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	52,954,315 - 53,045,269 (-)	Ensembl

Ensembl Acc Id:

ENST00000474837

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	52,969,233 - 53,046,750 (-)	Ensembl

Ensembl Acc Id:

ENST00000482396 ⟹ ENSP00000418860

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	52,943,353 - 53,046,052 (-)	Ensembl

Ensembl Acc Id:

ENST00000483069 ⟹ ENSP00000418950

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	52,943,434 - 53,046,663 (-)	Ensembl

Ensembl Acc Id:

ENST00000485494

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	53,043,136 - 53,046,057 (-)	Ensembl

Ensembl Acc Id:

ENST00000492146

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	52,921,703 - 52,928,495 (-)	Ensembl

Ensembl Acc Id:

ENST00000497586 ⟹ ENSP00000419215

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	52,943,566 - 53,046,641 (-)	Ensembl

RefSeq Acc Id:

NM_016329 ⟹ NP_057413

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	3	52,903,572 - 53,046,073 (-)	NCBI
GRCh37	3	52,933,221 - 53,080,089 (-)	NCBI
Build 36	3	52,913,667 - 53,055,110 (-)	NCBI Archive
Celera	3	52,916,400 - 53,047,177 (-)	RGD
HuRef	3	52,999,200 - 53,129,628 (-)	ENTREZGENE
CHM1_1	3	52,889,772 - 53,031,734 (-)	NCBI
T2T-CHM13v2.0	3	52,936,457 - 53,078,977 (-)	NCBI

Sequence:

show sequence

ATATTGGAATGAGTCGGAGCGCGGAGCGCCGCCGCCGCCTCCGCCGGAGCGCGGGTGGAGGGGG
GCGGGGAGAGCTGCCGGCCGCCCCGCTCCGCCGAACCCAGCAGGAAGGAGGGCGCGAGCGGGCG
AGCGCGGGCAGCACGGGAGGAAAAAGCTTCCGCGCGGGGGAGCGAAAAGACGGAAAGAAAGAAA
GAAAACGAGCGCGAGAGGGGGAAAAGCGAGCGATCGAGCGAGCGCGCGCGCGAAAACTCCGGGC
AGCACTTTCATTTGGACCCGTGGATACCCATTGAACAGATGCTTGAAACCTGCAAGTAATCTTC
AGATCCTAGCAGAACCATAGGCCTTTCCTTTGTTTTGGGAGGATATAGCCTGCCTATATGCTGT
GGAAATGAACGGGGAGCAGCAGCTTGATGCAGATGCCGGCTCTGGTATGGAAGAGGTAGAATTA
AGCTGGGAAGATTATCTAGAAGAAACAGGGTCCACAGCAGTTCCCTATGGGTCTTTTAAACATG
TGGACACACGTTTGCAAAATGGATTTGCTCCTGGGATGAAGCTGGAGGTGGCTGTGAGAACAGA
TCCTGAGACCTACTGGGTTGCCACCGTTATCACTACCTGTGAGCAGTTGCTCCTTCTCCGCTAT
GATGGCTATGGGGAGGATCGGAGAGCAGATTTCTGGTGTGACATCAGGAAGGCTGATCTCTACC
CCATTGGGTGGTGTGAGCAGAATAAGAAGACCCTTGAAGCCCCAGAAGGCATCAGAGATAAAGT
ATCTGACTGGGATGAGTTTCTGCGGCAGACCCTGATAGGAGCATGTAGTCCTCCTGTTCCGCTG
CTAGAGGGCCTCCGTAATGGGAGGAATCCTTTAGATCTCATTGCTCCAGGATCCAGACTAGAAT
GTCAAGCTTTCCAGGACTCTTTAAGCACTTGGATTGTTACTGTAGTAGAAAACATTGGAGGAAG
GCTGAAGCTACGTTATGAAGGACTTGAAAGTTCTGACAATTATGAACATTGGTTGTATTACTTG
GATCCATTTCTTCATCACGTTGGTTGGGCTGCTCAACAGGGATATGAGCTTCAGCCCCCTTCAG
CCATTAGACATCTAAAAAATGAAGCTGAGTGGCAAGAGATTTTGGCCAAAGTGAAAGAGGAAGA
GGAAGAGCCATTACCATCTTACTTATTTAAGGACAAACAAGTTATTGGCATTCATACATTCTCT
GTAAACATGAAATTGGAAGCTGTAGACCCCTGGTCTCCTTTTGGGATCTCTCCTGCTACAGTTG
TTAAGGTTTTTGATGAGAAGTACTTTCTGGTGGAAATGGATGACTTGCGTCCTGAGAACCACGC
ACGGCGATCCTTTGTGTGCCACGCCGACAGTCCTGGCATCTTCCCTGTGCAGTGGAGTCTGAAG
AATGGCCTACACATCAGCCCCCCTCCAGGCTACCCAAGCCAGGACTTTGACTGGGCTGACTACC
TCAAACAGTGTGGTGCTGAAGCTGCTCCCCAGAGGTGCTTCCCTCCGTTAATTTCTGAACATGA
ATTTAAGGAGAACATGAAGCTCGAGGCGGTGAACCCCATTCTCCCTGAAGAAGTGTGTGTTGCT
ACCATCACTGCAGTGAGAGGCTCCTACCTGTGGCTCCAGCTGGAGGGTTCTAAGAAGCCTATAC
CTGAATGTATTGTGAGTGTGGAATCCATGGATATATTTCCTTTGGGCTGGTGTGAAACCAACGG
CCACCCCCTCAGCACTCCTCGCCGAGCACGAGTATATAAACAGAGGAAAATTGCAGTGGTTCAG
CCAGAAAAACAAGTACCATCCTCGAGGACTGTCCACGAGGGCCTGAGGAATCAGGAGCTGAACT
CCACAGAGTCAGTTATGATTAATGGAAAATATTGCTGTCCAAAGATATACTTCAACCACCGTTG
CTTCTCAGGGCCATATCTTAACAAAGGAAGAATTGCTGAGCTGCCTCAATGTGTAGGACCTGGG
AACTGTGTTCTGGTCCTTAGAGAGGTCCTCACTTTACTTATCAATGCAGCCTACAAACCCAGCC
GTGTCCTTCGGGAGCTCCAGCTGGACAAAGACTCTGTGTGGCACGGATGTGGGGAAGTCCTAAA
AGCCAAATATAAAGGAAAGAGTTATCGGGCTACTGTTGAGATAGTGAAAACAGCAGATCGGGTG
ACTGAATTCTGCCGGCAAACCTGTATCAAACTGGAATGCTGTCCTAACCTCTTCGGTCCACGGA
TGGTTCTGGATAAGTGTTCTGAGAACTGTTCTGTACTTACAAAGACCAAATACACACACTATTA
CGGAAAGAAGAAAAATAAAAGAATTGGGAGGCCACCTGGTGGGCATAGTAACTTAGCTTGTGCC
CTGAAAAAAGCCAGTAAGAGGAGAAAGAGGCGGAAAAATGTTTTTGTTCATAAGAAGAAACGCT
CCTCTGCATCTGTTGATAATACCCCAGCGGGCTCTCCCCAGGGAAGTGGGGGTGAAGATGAGGA
TGACCCAGATGAAGGGGATGATGATTCCCTAAGTGAAGGCAGTACATCCGAGCAGCAGGATGAG
CTACAGGAAGAATCAGAAATGTCAGAAAAAAAGTCATGCTCCTCTTCTCCCACCCAAAGTGAGA
TATCCACATCGCTGCCTCCAGATAGACAAAGGAGAAAAAGGGAGCTTCGCACCTTTTCATTTTC
TGACGATGAAAATAAACCTCCTTCACCAAAGGAAATAAGGATCGAAGTTGCTGAAAGGCTTCAC
CTGGACAGTAACCCCTTGAAGTGGAGTGTGGCAGACGTTGTGCGGTTCATCAGATCCACTGACT
GTGCTCCATTAGCAAGAATATTCCTAGACCAGGAAATTGATGGGCAGGCCCTGTTGCTCCTTAC
CCTTCCCACTGTTCAAGAATGCATGGACTTAAAATTGGGCCCTGCCATCAAACTTTGCCATCAC
ATAGAGAGGATCAAGTTTGCTTTTTATGAGCAGTTTGCCAACTGAGAAGGACAACCAAAGTGAG
CTGGATCTTTGAAGCACAAATGCAGCAAATCCTTCACCCTGCTTTATAAGTGGAGCTGGAATAG
TCCTGGGGCTCTGGGGCCTGCAGGTATCAGCTTGCTCTCTTTGCACTTTCGGGGAAGGAGGACT
CACAGTGAGGAAGCAAAAACTGTGCACAGAAGTGGATCACCTGCTGGTGGAAATGTGGACATCT
CTTGTTCAGCAGATGGCAGTTTTTAAAAAATAAAGGTTGTGAGGAAAAGACTTATATAAGAAGA
AAAGCATTTCCAGTGGTGTGGCCTGAAAACAAAGAATAACCTAGGCTGCTGGAAAGCACCCTTT
TGGTTGTTTTCATTCTGTTCCCTCCCATTGTAGATTGAACTTTGTTCTCTGCTTTCTTTTTCTT
GGAAAGAGAGGACTTAGCTTTAAGTCAGCACTGATTTGGGACTGTTCCTAAGGCATATCAGTGC
TTCATTGTCATTGTGTTTTTAAACTTTTTAAAATTAAAACAGTTCATTTTGGGGATGATTATGT
GGCTCTAGGGTTTTGAATGTATAGTCACACTTTGATCATTTTAAAATCGATTCTTAGGAGTTCC
TTTGTTTACTACCTCTGTTGATAATTGAGCTTACAGCCATGTATGAGGTTTTTTGTATGATGCC
ATTTTTAAGCTACATAAACACTAAAATTATGACAGAATTTGGAGGGGGGGAAACTGTTTGCTTT
CTTAAAAACATTATATGGGGCACTTACACCAGTTCCTTAACTGACCTGATCTGAGAACTCTACT
GTTACTGTTCTCCATCTTGACCCAGCCGAGGCTGCCTGTGTTAAGTAACATCACCAAGACTGTT
AGTATTTCTGTTTAATTGCCCTCTTCCTATTCATTCTCAGAGGGACTTCAGTGACTTTTATTTT
GTGTTTACTTTTCTCTAGAGTTGTTTGTCTACCTCTGTTTCATTTCTAAGGTCTTTACTTTGGG
TGAAAATCAGTAAGTGTTCCATGGACCCACAGCGAAGCCCATTTGTCCTTCTTTCCAGGTGTCT
CCAGTGTAGAAGCACAGCACAGAAAACATGTTTTGGAGGGTAACGCAGAGCATGGAGTTTCTGT
TAGCAGTGTCCTCAGTGGCAGGATAAATACTGAGATGTGGTTAAGGATTCTGGAAACCTCTTTG
CCTAGCCACACTTAGACTTTTTTCAGCTAATCCTTTAAATTGAATATAATCTTTAGTCCGAGGA
TTCCCATTTAAACAACTCAGTATTCTTTTAAGTGTGTCTTTTAGCCCAGCTCAAGTTAACATGA
AACTCCAGGTGAATTTTCACTTACTATTCCATTGCTAGCTATTATAGAATAATAGCGTTTGCTG
CACTATTCTAGTCATGAGGAGTGAGGAAAAACATACATAGGTTGTCTCCCTTAAATGGTTTGCT
TTGCTGAATTTTTTTTATCCTAATCACCTGCAAATTTATAACCCAATCATTCTTCCTCAAGATT
TGAAAATGTTTTAATCCTGCAAACTGGGTGAATTCTAAACAGCTCTACAAATATAAGGAAATAT
TACAGCAAA

hide sequence

Protein Sequences


Protein RefSeqs	NP_057413	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAF19794	(Get FASTA)	NCBI Sequence Viewer
	AAH14614	(Get FASTA)	NCBI Sequence Viewer
	BAE43835	(Get FASTA)	NCBI Sequence Viewer
	BAG36680	(Get FASTA)	NCBI Sequence Viewer
	CAB45734	(Get FASTA)	NCBI Sequence Viewer
	EAW65271	(Get FASTA)	NCBI Sequence Viewer
	EAW65272	(Get FASTA)	NCBI Sequence Viewer
	EAW65273	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000378235
	ENSP00000378235.2
	ENSP00000418860.1
	ENSP00000418950.1
	ENSP00000419215.1
GenBank Protein	Q9UHJ3	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:

NP_057413 ⟸ NM_016329

- UniProtKB:

Q96C73 (UniProtKB/Swiss-Prot), Q402F7 (UniProtKB/Swiss-Prot), Q9Y4Q9 (UniProtKB/Swiss-Prot), Q9UHJ3 (UniProtKB/Swiss-Prot)

- Sequence:

show sequence

MNGEQQLDADAGSGMEEVELSWEDYLEETGSTAVPYGSFKHVDTRLQNGFAPGMKLEVAVRTDP
ETYWVATVITTCEQLLLLRYDGYGEDRRADFWCDIRKADLYPIGWCEQNKKTLEAPEGIRDKVS
DWDEFLRQTLIGACSPPVPLLEGLRNGRNPLDLIAPGSRLECQAFQDSLSTWIVTVVENIGGRL
KLRYEGLESSDNYEHWLYYLDPFLHHVGWAAQQGYELQPPSAIRHLKNEAEWQEILAKVKEEEE
EPLPSYLFKDKQVIGIHTFSVNMKLEAVDPWSPFGISPATVVKVFDEKYFLVEMDDLRPENHAR
RSFVCHADSPGIFPVQWSLKNGLHISPPPGYPSQDFDWADYLKQCGAEAAPQRCFPPLISEHEF
KENMKLEAVNPILPEEVCVATITAVRGSYLWLQLEGSKKPIPECIVSVESMDIFPLGWCETNGH
PLSTPRRARVYKQRKIAVVQPEKQVPSSRTVHEGLRNQELNSTESVMINGKYCCPKIYFNHRCF
SGPYLNKGRIAELPQCVGPGNCVLVLREVLTLLINAAYKPSRVLRELQLDKDSVWHGCGEVLKA
KYKGKSYRATVEIVKTADRVTEFCRQTCIKLECCPNLFGPRMVLDKCSENCSVLTKTKYTHYYG
KKKNKRIGRPPGGHSNLACALKKASKRRKRRKNVFVHKKKRSSASVDNTPAGSPQGSGGEDEDD
PDEGDDDSLSEGSTSEQQDELQEESEMSEKKSCSSSPTQSEISTSLPPDRQRRKRELRTFSFSD
DENKPPSPKEIRIEVAERLHLDSNPLKWSVADVVRFIRSTDCAPLARIFLDQEIDGQALLLLTL
PTVQECMDLKLGPAIKLCHHIERIKFAFYEQFAN

hide sequence

Ensembl Acc Id:

ENSP00000418860 ⟸ ENST00000482396

Ensembl Acc Id:

ENSP00000419215 ⟸ ENST00000497586

Ensembl Acc Id:

ENSP00000418950 ⟸ ENST00000483069

Ensembl Acc Id:

ENSP00000378235 ⟸ ENST00000394752

Protein Domains

SAM

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q9UHJ3-F1-model_v2	AlphaFold	Q9UHJ3	1-866	view protein structure

Promoters

RGD ID:

6864724

Promoter ID:

EPDNEW_H5527

Type:

initiation region

Name:

SFMBT1_3

Description:

Scm-like with four mbt domains 1

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H5528 EPDNEW_H5529

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	3	52,999,323 - 52,999,383	EPDNEW

RGD ID:

6864726

Promoter ID:

EPDNEW_H5528

Type:

initiation region

Name:

SFMBT1_1

Description:

Scm-like with four mbt domains 1

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H5527 EPDNEW_H5529

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	3	53,046,073 - 53,046,133	EPDNEW

RGD ID:

6864728

Promoter ID:

EPDNEW_H5529

Type:

initiation region

Name:

SFMBT1_2

Description:

Scm-like with four mbt domains 1

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H5527 EPDNEW_H5528

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	3	53,046,728 - 53,046,788	EPDNEW

RGD ID:

6801672

Promoter ID:

HG_KWN:45276

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, CD4+TCell_12Hour, Jurkat, K562, Lymphoblastoid, NB4

Transcripts:

NM_001005159

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	3	53,053,976 - 53,055,242 (-)	MPROMDB

RGD ID:

6801674

Promoter ID:

HG_KWN:45277

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:

ENST00000296295, NM_001005158, NM_016329

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	3	53,054,896 - 53,055,752 (-)	MPROMDB

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:20255	AgrOrtholog
COSMIC	SFMBT1	COSMIC
Ensembl Genes	ENSG00000163935	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000394752	ENTREZGENE
	ENST00000394752.8	UniProtKB/Swiss-Prot
	ENST00000482396.5	UniProtKB/TrEMBL
	ENST00000483069.5	UniProtKB/TrEMBL
	ENST00000497586.5	UniProtKB/TrEMBL
Gene3D-CATH	1.10.150.50	UniProtKB/Swiss-Prot
	2.30.30.140	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	3.90.1150.190	UniProtKB/Swiss-Prot
GTEx	ENSG00000163935	GTEx
HGNC ID	HGNC:20255	ENTREZGENE
Human Proteome Map	SFMBT1	Human Proteome Map
InterPro	Mbt	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	MBT_SFMBT1_rpt2	UniProtKB/Swiss-Prot
	MBT_SFMBT1_rpt3	UniProtKB/Swiss-Prot
	PcG_chromatin_remod_factors	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	SAM	UniProtKB/Swiss-Prot
	SAM/pointed_sf	UniProtKB/Swiss-Prot
	Scm-like-4MBT1/2_SAM	UniProtKB/Swiss-Prot
	SLED	UniProtKB/Swiss-Prot
	SLED_sf	UniProtKB/Swiss-Prot
KEGG Report	hsa:51460	UniProtKB/Swiss-Prot
NCBI Gene	51460	ENTREZGENE
OMIM	607319	OMIM
PANTHER	POLYCOMB GROUP PROTEIN	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	SCM-LIKE WITH FOUR MBT DOMAINS PROTEIN 1	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	MBT	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	SAM_1	UniProtKB/Swiss-Prot
	SLED	UniProtKB/Swiss-Prot
PharmGKB	PA134898464	PharmGKB
PROSITE	MBT	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART	MBT	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	SAM	UniProtKB/Swiss-Prot
Superfamily-SCOP	SSF47769	UniProtKB/Swiss-Prot
	Tudor/PWWP/MBT	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt	C9IY64_HUMAN	UniProtKB/TrEMBL
	C9IZZ5_HUMAN	UniProtKB/TrEMBL
	C9JWI3_HUMAN	UniProtKB/TrEMBL
	Q402F7	ENTREZGENE
	Q96C73	ENTREZGENE
	Q9UHJ3	ENTREZGENE
	Q9Y4Q9	ENTREZGENE
	SMBT1_HUMAN	UniProtKB/Swiss-Prot
UniProt Secondary	Q402F7	UniProtKB/Swiss-Prot
	Q96C73	UniProtKB/Swiss-Prot
	Q9Y4Q9	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2017-07-27	SFMBT1	Scm like with four mbt domains 1		Scm-like with four mbt domains 1	Symbol and/or name change	5135510	APPROVED

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)

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar

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Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar