RNFT1 (ring finger protein, transmembrane 1)

Gene: RNFT1 (ring finger protein, transmembrane 1) Homo sapiens

Analyze

Symbol:

RNFT1

Name:

ring finger protein, transmembrane 1

RGD ID:

1606007

HGNC Page

HGNC:30206

Description:

Enables ubiquitin binding activity and ubiquitin protein ligase activity. Involved in positive regulation of ERAD pathway and protein autoubiquitination. Located in endoplasmic reticulum.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

E3 ubiquitin-protein ligase RNFT1; MGC111090; PTD016; RING finger and transmembrane domain-containing protein 1

RGD Orthologs

Alliance Orthologs

More Info

more info ...

Related Pseudogenes:

RNFT1P1 RNFT1P2 RNFT1P3

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	17	59,952,240 - 59,964,740 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	17	59,952,240 - 59,964,761 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	17	58,029,601 - 58,042,101 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	17	55,384,505 - 55,396,899 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	17	54,493,237 - 54,505,631 (-)	NCBI		Celera
Cytogenetic Map	17	q23.1	NCBI
HuRef	17	53,402,180 - 53,414,575 (-)	NCBI		HuRef
CHM1_1	17	58,093,740 - 58,106,136 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	17	60,820,980 - 60,833,476 (-)	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

Joubert syndrome 1 (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

(-)-epigallocatechin 3-gallate (EXP)

1,2-dimethylhydrazine (ISO)

17alpha-ethynylestradiol (ISO)

17beta-estradiol (EXP)

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

acrylamide (EXP)

aflatoxin B1 (ISO)

antirheumatic drug (EXP)

aristolochic acid A (EXP)

atrazine (EXP)

benzo[a]pyrene (EXP)

bisphenol A (ISO)

calcitriol (EXP)

carbamazepine (EXP)

dibutyl phthalate (ISO)

dicrotophos (EXP)

dioxygen (EXP)

dorsomorphin (EXP)

doxorubicin (EXP)

gold atom (EXP)

gold(0) (EXP)

levonorgestrel (EXP)

mercury dibromide (EXP)

methyl methanesulfonate (EXP)

ozone (EXP)

paracetamol (ISO)

phenylmercury acetate (EXP)

potassium chromate (EXP)

quercetin (EXP)

quinolin-8-ol (EXP)

SB 431542 (EXP)

sunitinib (EXP)

testosterone undecanoate (EXP)

thioacetamide (ISO)

trichostatin A (EXP)

tungsten (ISO)

valproic acid (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

positive regulation of ERAD pathway (IBA,IEA,IMP)

protein autoubiquitination (IDA)

protein ubiquitination (IEA)

Cellular Component

endoplasmic reticulum (IBA,IDA,IEA)

endoplasmic reticulum membrane (IEA)

membrane (IEA)

Molecular Function

metal ion binding (IEA)

transferase activity (IEA)

ubiquitin binding (IDA)

ubiquitin protein ligase activity (IBA,IDA,IEA)

References

References - curated

#	Reference Title	Reference Citation
1.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

Additional References at PubMed

PMID:12477932	PMID:19690564	PMID:19913121	PMID:20628086	PMID:21873635	PMID:22658674	PMID:22810586	PMID:23251661	PMID:24104479	PMID:27485036	PMID:28514442	PMID:30653426
PMID:30759391	PMID:32614325	PMID:33961781	PMID:34079125	PMID:35696571

Genomics

Comparative Map Data

RNFT1
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	17	59,952,240 - 59,964,740 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	17	59,952,240 - 59,964,761 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	17	58,029,601 - 58,042,101 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	17	55,384,505 - 55,396,899 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	17	54,493,237 - 54,505,631 (-)	NCBI		Celera
Cytogenetic Map	17	q23.1	NCBI
HuRef	17	53,402,180 - 53,414,575 (-)	NCBI		HuRef
CHM1_1	17	58,093,740 - 58,106,136 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	17	60,820,980 - 60,833,476 (-)	NCBI		T2T-CHM13v2.0

Rnft1
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	11	86,375,483 - 86,389,833 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	11	86,375,483 - 86,389,851 (+)	Ensembl		GRCm39 Ensembl
GRCm38	11	86,484,657 - 86,499,007 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	11	86,484,657 - 86,499,025 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	11	86,298,159 - 86,312,509 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	11	86,300,852 - 86,315,202 (+)	NCBI		MGSCv36	mm8
Celera	11	96,100,673 - 96,115,091 (+)	NCBI		Celera
Cytogenetic Map	11	C	NCBI
cM Map	11	51.82	NCBI

Rnft1
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	10	71,807,403 - 71,821,132 (+)	NCBI		GRCr8
mRatBN7.2	10	71,310,052 - 71,322,507 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	10	71,310,104 - 71,323,778 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	10	75,929,989 - 75,941,112 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	10	75,434,797 - 75,445,920 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	10	70,899,410 - 70,910,533 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	10	73,807,455 - 73,821,178 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	10	73,809,157 - 73,817,982 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	10	76,278,401 - 76,292,132 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	10	76,640,223 - 76,651,484 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
Celera	10	70,231,791 - 70,245,501 (+)	NCBI		Celera
Cytogenetic Map	10	q26	NCBI

Rnft1
(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_004955451	3,164,845 - 3,178,991 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955451	3,165,316 - 3,178,991 (+)	NCBI	ChiLan1.0	ChiLan1.0

RNFT1
(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	19	76,113,925 - 76,126,370 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	17	80,924,130 - 80,937,015 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	17	54,016,689 - 54,029,100 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	17	58,858,294 - 58,869,908 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	17	58,858,416 - 58,869,908 (-)	Ensembl	panpan1.1		panPan2

RNFT1
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	9	34,430,119 - 34,442,760 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	9	34,335,554 - 34,442,374 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	9	33,662,099 - 33,674,787 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	9	35,241,103 - 35,253,845 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	9	35,241,110 - 35,253,442 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	9	34,024,780 - 34,037,509 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	9	34,309,749 - 34,322,468 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	9	34,395,977 - 34,408,708 (-)	NCBI		UU_Cfam_GSD_1.0

Rnft1
(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	33,635,983 - 33,648,362 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936490	3,426,762 - 3,438,900 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936490	3,426,692 - 3,439,179 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

RNFT1
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	12	36,162,444 - 36,174,851 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	12	36,162,438 - 36,175,135 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	12	37,534,630 - 37,542,161 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

RNFT1
(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	16	33,483,167 - 33,496,608 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	16	33,483,194 - 33,497,325 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666077	4,268,841 - 4,282,313 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Rnft1
(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_004624871	1,707,509 - 1,721,078 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624871	1,707,570 - 1,721,026 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in RNFT1
17 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	copy number gain	See cases [RCV000050957]	Chr17:36449220..68170214 [GRCh38] Chr17:48563237..65936105 [GRCh37] Chr17:45918236..63677950 [NCBI36] Chr17:17q21.33-24.2	pathogenic
GRCh38/hg38 17q23.2-25.3(chr17:36449220-83086677)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]\|See cases [RCV000052483]	Chr17:36449220..83086677 [GRCh38] Chr17:58617905..81044553 [GRCh37] Chr17:55972687..78637842 [NCBI36] Chr17:17q23.2-25.3	pathogenic
GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	copy number gain	See cases [RCV000137437]	Chr17:36449220..75053130 [GRCh38] Chr17:57595736..73049225 [GRCh37] Chr17:54950518..70560820 [NCBI36] Chr17:17q23.1-25.1	pathogenic
GRCh37/hg19 17q22-23.3(chr17:56321134-62080001)x3	copy number gain	See cases [RCV000240364]	Chr17:56321134..62080001 [GRCh37] Chr17:17q22-23.3	pathogenic
GRCh37/hg19 17q21.33-23.2(chr17:49076980-58740945)x3	copy number gain	See cases [RCV000448805]	Chr17:49076980..58740945 [GRCh37] Chr17:17q21.33-23.2	pathogenic
GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	copy number gain	See cases [RCV000447823]	Chr17:42580684..81085615 [GRCh37] Chr17:17q21.31-25.3	pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	copy number gain	See cases [RCV000511439]	Chr17:526..81041938 [GRCh37] Chr17:17p13.3-q25.3	pathogenic
GRCh37/hg19 17q22-23.2(chr17:56623275-60285107)x1	copy number loss	See cases [RCV000511292]	Chr17:56623275..60285107 [GRCh37] Chr17:17q22-23.2	pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	copy number gain	See cases [RCV000512441]	Chr17:526..81041938 [GRCh37] Chr17:17p13.3-q25.3	pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3	copy number gain	not provided [RCV000739325]	Chr17:12344..81057996 [GRCh37] Chr17:17p13.3-q25.3	pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3	copy number gain	not provided [RCV000739324]	Chr17:8547..81060040 [GRCh37] Chr17:17p13.3-q25.3	pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3	copy number gain	not provided [RCV000739320]	Chr17:7214..81058310 [GRCh37] Chr17:17p13.3-q25.3	pathogenic
GRCh37/hg19 17q22-23.1(chr17:57582867-58080569)x3	copy number gain	not provided [RCV000752157]	Chr17:57582867..58080569 [GRCh37] Chr17:17q22-23.1	benign
GRCh37/hg19 17q22-24.2(chr17:57357088-66306668)	copy number gain	not provided [RCV000767764]	Chr17:57357088..66306668 [GRCh37] Chr17:17q22-24.2	pathogenic
GRCh37/hg19 17q23.1-24.2(chr17:57869604-67078443)x3	copy number gain	not provided [RCV000845965]	Chr17:57869604..67078443 [GRCh37] Chr17:17q23.1-24.2	pathogenic
GRCh37/hg19 17q23.1-23.2(chr17:57605300-59389547)x1	copy number loss	not provided [RCV001827980]	Chr17:57605300..59389547 [GRCh37] Chr17:17q23.1-23.2	pathogenic
NC_000017.10:g.(?_54671585)_(59938900_?)dup	duplication	Familial aplasia of the vermis [RCV001923071]	Chr17:54671585..59938900 [GRCh37] Chr17:17q22-23.2	uncertain significance
NM_016125.4(RNFT1):c.205G>A (p.Gly69Arg)	single nucleotide variant	not specified [RCV004097447]	Chr17:59963136 [GRCh38] Chr17:58040497 [GRCh37] Chr17:17q23.1	uncertain significance
NM_016125.4(RNFT1):c.887A>G (p.Tyr296Cys)	single nucleotide variant	not specified [RCV004245782]	Chr17:59957342 [GRCh38] Chr17:58034703 [GRCh37] Chr17:17q23.1	uncertain significance
NM_016125.4(RNFT1):c.397T>G (p.Ser133Ala)	single nucleotide variant	not specified [RCV004137694]	Chr17:59962944 [GRCh38] Chr17:58040305 [GRCh37] Chr17:17q23.1	uncertain significance
NM_016125.4(RNFT1):c.721C>T (p.His241Tyr)	single nucleotide variant	not specified [RCV004197095]	Chr17:59958416 [GRCh38] Chr17:58035777 [GRCh37] Chr17:17q23.1	uncertain significance
NM_016125.4(RNFT1):c.749T>C (p.Ile250Thr)	single nucleotide variant	not specified [RCV004139897]	Chr17:59958388 [GRCh38] Chr17:58035749 [GRCh37] Chr17:17q23.1	uncertain significance
NM_016125.4(RNFT1):c.604A>G (p.Lys202Glu)	single nucleotide variant	not specified [RCV004174910]	Chr17:59960156 [GRCh38] Chr17:58037517 [GRCh37] Chr17:17q23.1	uncertain significance
NM_016125.4(RNFT1):c.244C>G (p.Gln82Glu)	single nucleotide variant	not specified [RCV004234357]	Chr17:59963097 [GRCh38] Chr17:58040458 [GRCh37] Chr17:17q23.1	uncertain significance
NM_016125.4(RNFT1):c.1302A>G (p.Ile434Met)	single nucleotide variant	not specified [RCV004157698]	Chr17:59952983 [GRCh38] Chr17:58030344 [GRCh37] Chr17:17q23.1	uncertain significance
NM_016125.4(RNFT1):c.1121T>C (p.Ile374Thr)	single nucleotide variant	not specified [RCV004130065]	Chr17:59954097 [GRCh38] Chr17:58031458 [GRCh37] Chr17:17q23.1	uncertain significance
NM_016125.4(RNFT1):c.433C>T (p.Arg145Cys)	single nucleotide variant	not specified [RCV004216731]	Chr17:59962908 [GRCh38] Chr17:58040269 [GRCh37] Chr17:17q23.1	uncertain significance
NM_016125.4(RNFT1):c.1102T>C (p.Cys368Arg)	single nucleotide variant	not specified [RCV004234538]	Chr17:59954116 [GRCh38] Chr17:58031477 [GRCh37] Chr17:17q23.1	uncertain significance
NM_016125.4(RNFT1):c.346C>T (p.Arg116Trp)	single nucleotide variant	not specified [RCV004202909]	Chr17:59962995 [GRCh38] Chr17:58040356 [GRCh37] Chr17:17q23.1	uncertain significance
NM_016125.4(RNFT1):c.176C>A (p.Thr59Asn)	single nucleotide variant	not specified [RCV004145205]	Chr17:59963165 [GRCh38] Chr17:58040526 [GRCh37] Chr17:17q23.1	uncertain significance
NM_016125.4(RNFT1):c.875T>C (p.Leu292Ser)	single nucleotide variant	not specified [RCV004261049]	Chr17:59957354 [GRCh38] Chr17:58034715 [GRCh37] Chr17:17q23.1	uncertain significance
NM_016125.4(RNFT1):c.179C>G (p.Pro60Arg)	single nucleotide variant	not specified [RCV004347917]	Chr17:59963162 [GRCh38] Chr17:58040523 [GRCh37] Chr17:17q23.1	uncertain significance
NM_016125.4(RNFT1):c.569T>C (p.Ile190Thr)	single nucleotide variant	not specified [RCV004336178]	Chr17:59962562 [GRCh38] Chr17:58039923 [GRCh37] Chr17:17q23.1	uncertain significance
NM_016125.4(RNFT1):c.138C>T (p.His46=)	single nucleotide variant	not provided [RCV003413289]	Chr17:59963203 [GRCh38] Chr17:58040564 [GRCh37] Chr17:17q23.1	likely benign
NM_016125.4(RNFT1):c.1156A>G (p.Ile386Val)	single nucleotide variant	not specified [RCV004446806]	Chr17:59954062 [GRCh38] Chr17:58031423 [GRCh37] Chr17:17q23.1	likely benign
NM_016125.4(RNFT1):c.1220A>G (p.Lys407Arg)	single nucleotide variant	not specified [RCV004446807]	Chr17:59953065 [GRCh38] Chr17:58030426 [GRCh37] Chr17:17q23.1	uncertain significance
NM_016125.4(RNFT1):c.167A>G (p.Asp56Gly)	single nucleotide variant	not specified [RCV004446809]	Chr17:59963174 [GRCh38] Chr17:58040535 [GRCh37] Chr17:17q23.1	uncertain significance
NM_016125.4(RNFT1):c.191A>G (p.His64Arg)	single nucleotide variant	not specified [RCV004446810]	Chr17:59963150 [GRCh38] Chr17:58040511 [GRCh37] Chr17:17q23.1	uncertain significance
NM_016125.4(RNFT1):c.487G>A (p.Val163Ile)	single nucleotide variant	not specified [RCV004446812]	Chr17:59962854 [GRCh38] Chr17:58040215 [GRCh37] Chr17:17q23.1	uncertain significance
NM_016125.4(RNFT1):c.512C>T (p.Thr171Ile)	single nucleotide variant	not specified [RCV004446814]	Chr17:59962829 [GRCh38] Chr17:58040190 [GRCh37] Chr17:17q23.1	uncertain significance
NM_016125.4(RNFT1):c.59G>A (p.Arg20Lys)	single nucleotide variant	not specified [RCV004446815]	Chr17:59963282 [GRCh38] Chr17:58040643 [GRCh37] Chr17:17q23.1	uncertain significance
NM_016125.4(RNFT1):c.613T>C (p.Cys205Arg)	single nucleotide variant	not specified [RCV004446816]	Chr17:59960147 [GRCh38] Chr17:58037508 [GRCh37] Chr17:17q23.1	uncertain significance
NM_016125.4(RNFT1):c.1261A>G (p.Asn421Asp)	single nucleotide variant	not specified [RCV004446808]	Chr17:59953024 [GRCh38] Chr17:58030385 [GRCh37] Chr17:17q23.1	uncertain significance
NM_016125.4(RNFT1):c.4C>G (p.Pro2Ala)	single nucleotide variant	not specified [RCV004446813]	Chr17:59964660 [GRCh38] Chr17:58042021 [GRCh37] Chr17:17q23.1	uncertain significance

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	2092
Count of miRNA genes:	733
Interacting mature miRNAs:	823
Transcripts:	ENST00000305783, ENST00000442346, ENST00000466544, ENST00000477207, ENST00000482446, ENST00000484257, ENST00000486103, ENST00000493737, ENST00000586083, ENST00000589113
Prediction methods:	Microtar, Miranda, Pita, 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

RH98194

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	17	58,029,984 - 58,030,108	UniSTS	GRCh37
Build 36	17	55,384,766 - 55,384,890	RGD	NCBI36
Celera	17	54,493,498 - 54,493,622	RGD
Cytogenetic Map	17	q23.1	UniSTS
HuRef	17	53,402,441 - 53,402,565	UniSTS
GeneMap99-GB4 RH Map	17	372.1	UniSTS

G42236

Human Assembly	Chr	Position (strand)	Source
Cytogenetic Map	2	q13	UniSTS
Cytogenetic Map	12	q24.2	UniSTS
Cytogenetic Map	17	p13.1	UniSTS
Cytogenetic Map	6	p21	UniSTS
Cytogenetic Map	17	q21.1	UniSTS
Cytogenetic Map	19	q13.2	UniSTS
Cytogenetic Map	17	q23.1	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

675

470

1201

344

776

234

1585

240

903

108

936

1221

121

1037

707

Low

1764

2503

524

280

1162

231

2772

1952

2825

309

522

391

167

2081

Below cutoff

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_016125	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC004686	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC005702	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC245929	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF100745	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK098649	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK294806	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK295162	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK296197	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC006971	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC088365	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471109	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068261	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DB456985	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENST00000305783 ⟹ ENSP00000304670

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	59,952,240 - 59,964,740 (-)	Ensembl

RefSeq Acc Id:

ENST00000466544 ⟹ ENSP00000436533

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	59,952,396 - 59,964,761 (-)	Ensembl

RefSeq Acc Id:

ENST00000477207

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	59,962,321 - 59,964,737 (-)	Ensembl

RefSeq Acc Id:

ENST00000482446 ⟹ ENSP00000436144

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	59,952,362 - 59,964,734 (-)	Ensembl

RefSeq Acc Id:

ENST00000484257 ⟹ ENSP00000436909

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	59,956,488 - 59,962,599 (-)	Ensembl

RefSeq Acc Id:

ENST00000486103

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	59,953,949 - 59,958,637 (-)	Ensembl

RefSeq Acc Id:

ENST00000493737

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	59,958,434 - 59,962,966 (-)	Ensembl

RefSeq Acc Id:

ENST00000586083

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	59,959,384 - 59,964,712 (-)	Ensembl

RefSeq Acc Id:

ENST00000589113 ⟹ ENSP00000464987

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	59,958,363 - 59,964,734 (-)	Ensembl

RefSeq Acc Id:

NM_016125 ⟹ NP_057209

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	17	59,952,240 - 59,964,740 (-)	NCBI
GRCh37	17	58,029,723 - 58,042,117 (-)	RGD
Build 36	17	55,384,505 - 55,396,899 (-)	NCBI Archive
Celera	17	54,493,237 - 54,505,631 (-)	RGD
HuRef	17	53,402,180 - 53,414,575 (-)	RGD
CHM1_1	17	58,093,740 - 58,106,136 (-)	NCBI
T2T-CHM13v2.0	17	60,820,980 - 60,833,476 (-)	NCBI

Sequence:

show sequence

GCCGTTGCCGCCGGGCTGAGAGAAGAGCTTGCGGGGTTTGCGGTTGATGGCCCCGACTGAAGGG
CTGGAGGCGGTGTATGCCGCTGTTCTTGCTGTCGCTCCCGACACCTCCGTCCGCTTCTGGTCAT
GAGAGGAGACAGAGGCCTGAAGCAAAGACATCTGGGTCAGAGAAAAAGTATTTAAGGGCCATGC
AAGCCAATCGTAGCCAACTGCACAGTCCTCCAGGAACTGGAAGCAGTGAGGATGCCTCAACCCC
TCAGTGTGTCCACACAAGATTGACAGGAGAGGGTTCTTGCCCTCATTCTGGAGATGTTCATATC
CAGATAAACTCCATACCTAAAGAATGTGCAGAAAATGCAAGCTCCAGAAATATAAGGTCAGGTG
TCCATAGCTGTGCCCATGGATGTGTACACAGTCGCTTACGGGGTCACTCCCACAGTGAAGCAAG
GCTGACTGATGATACTGCCGCAGAATCTGGAGATCATGGTAGTAGCTCCTTCTCAGAATTCCGC
TATCTCTTCAAGTGGCTGCAAAAAAGTCTTCCATATATTTTGATTCTGAGCGTCAAACTTGTTA
TGCAGCATATAACAGGAATTTCTCTTGGAATTGGGCTGCTAACAACTTTTATGTATGCAAACAA
AAGCATTGTAAATCAGGTTTTTCTAAGAGAAAGGTCCTCAAAGATTCAGTGTGCTTGGTTACTG
GTATTCTTAGCAGGATCTTCTGTTCTTTTATATTACACCTTTCATTCTCAGTCACTTTATTACA
GCTTAATTTTTTTAAATCCTACTTTGGACCATTTGAGCTTCTGGGAAGTATTTTGGATTGTTGG
AATTACAGACTTCATTCTGAAATTCTTTTTCATGGGCTTAAAATGCCTTATTTTATTGGTGCCT
TCTTTCATCATGCCTTTTAAATCTAAGGGTTACTGGTATATGCTTTTAGAAGAATTGTGTCAAT
ACTACCGAACTTTTGTTCCCATACCAGTTTGGTTTCGCTACCTTATAAGCTATGGGGAGTTTGG
TAACGTAACTAGATGGAGTCTTGGGATACTGCTGGCTTTACTCTACCTCATATTAAAACTTTTG
GAATTTTTTGGGCATCTGAGAACTTTCAGACAGGTTTTACGAATATTTTTTACACAACCAAGTT
ATGGAGTGGCTGCCAGCAAGAGACAGTGTTCAGATGTGGATGATATTTGTTCAATATGTCAAGC
TGAATTTCAGAAGCCAATTCTTCTCATTTGTCAGCATATATTTTGTGAAGAGTGCATGACCTTA
TGGTTTAACAGAGAGAAAACATGTCCACTCTGCAGAACTGTGATTTCAGACCATATAAACAAAT
GGAAGGATGGAGCCACTTCATCACACCTTCAAATATATTAAGTTGTATAAACTATCAAGGCCAC
AAAATACTAATGTCATTTGGTCATAATGACTACTGATAAGGCATCAGAATGGATTTTCAGGGCT
ACCAGAAAAATGTTTCCAGATGGTTTTAGAATGTAGGACTTATGATCCAATTCACCAAAAGATT
AAATGAAACCACCCTGTGTTTTAAAATATATATAATGTTCAACCTAATGTATATGCAACATTTA
TTCTATTCTAATTATTTGACAGGTAACTGCAGTGTTAAATTGTAAATGTGTTTTCTTTATGTTA
CCAAAACAGCAATTTGAAATTAGAACTAGTGGTTTTAGAGAACTCAGGTATTCTTTCCTGACAT
TGTTTTCAGAATAAAGAATATTTTTCATAATATTTTAAGATACATACTATCTAAAAGTAGAATT
TTGTTCAGCATTGACTTTTATAATTCCCATCCTAAAAATTCTTAATATTTTCATAAAATTTGTA
TTTTTAAATGAAAATTCTAAATGTTGTATTTTATCAGTAACATTTTCTAAGTGAAGATTAATTT
ACTGAGGATGATACATTATAGTATTGTATTATTCTCTGTAGTAAGATTAGTAATAAGTGAAAAT
AAATGATTTAAATTCATTTTGTCTCTGGACGTCATAAATTCTTCCTGCCATCAGCTTTAATGTT
CATGATCATGCTTTTTGTATAGTACCATGGAGTATCTCGAAGTAACTATTAAAATAATTCATGT
GGATTATAAA

hide sequence

Protein Sequences


Protein RefSeqs	NP_057209	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAD43009	(Get FASTA)	NCBI Sequence Viewer
	AAH88365	(Get FASTA)	NCBI Sequence Viewer
	BAC05364	(Get FASTA)	NCBI Sequence Viewer
	BAG57925	(Get FASTA)	NCBI Sequence Viewer
	BAG58176	(Get FASTA)	NCBI Sequence Viewer
	BAG58926	(Get FASTA)	NCBI Sequence Viewer
	EAW94378	(Get FASTA)	NCBI Sequence Viewer
	EAW94379	(Get FASTA)	NCBI Sequence Viewer
	EAW94380	(Get FASTA)	NCBI Sequence Viewer
	EAW94381	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000304670
	ENSP00000304670.8
	ENSP00000436144.1
	ENSP00000436533.1
	ENSP00000436909.1
	ENSP00000464987.1
GenBank Protein	Q5M7Z0	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:

NP_057209 ⟸ NM_016125

- UniProtKB:

Q96IZ9 (UniProtKB/Swiss-Prot), Q8N7D0 (UniProtKB/Swiss-Prot), Q9Y686 (UniProtKB/Swiss-Prot), Q5M7Z0 (UniProtKB/Swiss-Prot)

- Sequence:

show sequence

MPLFLLSLPTPPSASGHERRQRPEAKTSGSEKKYLRAMQANRSQLHSPPGTGSSEDASTPQCVH
TRLTGEGSCPHSGDVHIQINSIPKECAENASSRNIRSGVHSCAHGCVHSRLRGHSHSEARLTDD
TAAESGDHGSSSFSEFRYLFKWLQKSLPYILILSVKLVMQHITGISLGIGLLTTFMYANKSIVN
QVFLRERSSKIQCAWLLVFLAGSSVLLYYTFHSQSLYYSLIFLNPTLDHLSFWEVFWIVGITDF
ILKFFFMGLKCLILLVPSFIMPFKSKGYWYMLLEELCQYYRTFVPIPVWFRYLISYGEFGNVTR
WSLGILLALLYLILKLLEFFGHLRTFRQVLRIFFTQPSYGVAASKRQCSDVDDICSICQAEFQK
PILLICQHIFCEECMTLWFNREKTCPLCRTVISDHINKWKDGATSSHLQIY

hide sequence

RefSeq Acc Id:

ENSP00000436533 ⟸ ENST00000466544

RefSeq Acc Id:

ENSP00000436144 ⟸ ENST00000482446

RefSeq Acc Id:

ENSP00000464987 ⟸ ENST00000589113

RefSeq Acc Id:

ENSP00000436909 ⟸ ENST00000484257

RefSeq Acc Id:

ENSP00000304670 ⟸ ENST00000305783

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q5M7Z0-F1-model_v2	AlphaFold	Q5M7Z0	1-435	view protein structure

Promoters

RGD ID:

6794702

Promoter ID:

HG_KWN:26735

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

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

Transcripts:

ENST00000343124, OTTHUMT00000308958, OTTHUMT00000308959, UC002IYC.1, UC002IYD.2, UC002IYE.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	17	55,396,711 - 55,397,211 (+)	MPROMDB

RGD ID:

7235871

Promoter ID:

EPDNEW_H23681

Type:

initiation region

Name:

RNFT1_1

Description:

ring finger protein, transmembrane 1

SO ACC ID:

SO:0000170

Source:

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

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	17	59,964,737 - 59,964,797	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:30206	AgrOrtholog
COSMIC	RNFT1	COSMIC
Ensembl Genes	ENSG00000189050	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000305783	ENTREZGENE
	ENST00000305783.13	UniProtKB/Swiss-Prot
	ENST00000466544.5	UniProtKB/TrEMBL
	ENST00000482446.5	UniProtKB/Swiss-Prot
	ENST00000484257.1	UniProtKB/TrEMBL
	ENST00000589113.1	UniProtKB/TrEMBL
Gene3D-CATH	3.30.40.10	UniProtKB/Swiss-Prot
GTEx	ENSG00000189050	GTEx
HGNC ID	HGNC:30206	ENTREZGENE
Human Proteome Map	RNFT1	Human Proteome Map
InterPro	RNFT1/2	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Znf_RING	UniProtKB/Swiss-Prot
	Znf_RING/FYVE/PHD	UniProtKB/Swiss-Prot
	Znf_RING_CS	UniProtKB/Swiss-Prot
KEGG Report	hsa:51136	UniProtKB/Swiss-Prot
NCBI Gene	51136	ENTREZGENE
OMIM	615172	OMIM
PANTHER	E3 UBIQUITIN-PROTEIN LIGASE RNFT1	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	PTHR15860	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	zf-RING_2	UniProtKB/Swiss-Prot
PharmGKB	PA162401921	PharmGKB
PROSITE	ZF_RING_1	UniProtKB/Swiss-Prot
	ZF_RING_2	UniProtKB/Swiss-Prot
SMART	RING	UniProtKB/Swiss-Prot
Superfamily-SCOP	RING/U-box	UniProtKB/Swiss-Prot
UniProt	E9PI44_HUMAN	UniProtKB/TrEMBL
	H0YEZ8_HUMAN	UniProtKB/TrEMBL
	K7EJ18_HUMAN	UniProtKB/TrEMBL
	Q5M7Z0	ENTREZGENE
	Q8N7D0	ENTREZGENE
	Q96IZ9	ENTREZGENE
	Q9Y686	ENTREZGENE
	RNFT1_HUMAN	UniProtKB/Swiss-Prot
UniProt Secondary	Q8N7D0	UniProtKB/Swiss-Prot
	Q96IZ9	UniProtKB/Swiss-Prot
	Q9Y686	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)

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Imported Disease Annotations - ClinVar