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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

RNFT1 Gene

protein-coding GIFtS: 46
GCID: GC17M058029

ring finger protein, transmembrane 1

Explore 1 disease affiliated with
RNFT1 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Ring Finger Protein, Transmembrane 1¹ ²
PTD016¹
RING Finger And Transmembrane Domain-Containing Protein 1²
Protein PTD016³

External Ids:	HGNC: 30206¹	Entrez Gene: 51136²	Ensembl: ENSG00000189050⁷	UniProtKB: Q5M7Z0³

Export aliases for RNFT1 gene to outside databases

Previous GC identifers: GC17M055387 GC17M053402

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000017.10 NC_018928.1 NT_010783.15

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the RNFT1 gene promoter:
GR POU3F2 (N-Oct-5a) POU3F2 (N-Oct-5b) POU3F2 Egr-4 MEF-2A PPAR-gamma1 aMEF-2 PPAR-gamma2 Pax-4a
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: RNFT1 promoter sequence

Search SABiosciences Chromatin IP Primers for RNFT1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RNFT1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 17q23.1 Ensembl cytogenetic band: 17q23.1 HGNC cytogenetic band: 17q23.2

RNFT1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RNFT1 gene location

GeneLoc information about chromosome 17 GeneLoc Exon Structure

GeneLoc location for GC17M058029: view genomic region (about GC identifiers)

Start:	58,029,601 bp from pter	End:	58,042,122 bp from pter
Size:	12,522 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: RNFT1_HUMAN, Q5M7Z0 (See protein sequence)

Recommended Name: RING finger and transmembrane domain-containing protein 1

Size: 435 amino acids; 49710 Da

Subcellular location: Membrane; Multi-pass membrane protein (Potential)

Sequence caution: Sequence=AAD43009.1; Type=Frameshift; Positions=150, 167; Sequence=BAC05364.1; Type=Erroneous

initiation;

Secondary accessions: Q8N7D0 Q96IZ9 Q9Y686

Alternative splicing: 3 isoforms: Q5M7Z0-1 Q5M7Z0-2 Q5M7Z0-3 (No experimental confirmation available. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay)

Explore the universe of human proteins at neXtProt for RNFT1: NX_Q5M7Z0

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q5M7Z0

RNFT1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_057209.3

ENSEMBL proteins:

ENSP00000304670 ENSP00000436144 ENSP00000436533 ENSP00000436909 ENSP00000464987

ENSP00000389049

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	Uscn Proteins for RNFT1

Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0016021	integral to membrane	IEA	--

RNFT1 for ontologies About GeneDecksing

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(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

RNFT1 for domains About GeneDecksing

3 InterPro domains/families:

IPR017907 Znf_RING_CS

IPR001841 Znf_RING

IPR013083 Znf_RING/FYVE/PHD

Graphical View of Domain Structure for InterPro Entry Q5M7Z0

ProtoNet protein and cluster: Q5M7Z0

UniProtKB/Swiss-Prot: RNFT1_HUMAN, Q5M7Z0

Similarity: Contains 1 RING-type zinc finger

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

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In Situ Assay
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Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0008270	zinc ion binding	IEA	--

RNFT1 for ontologies About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for RNFT1

STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

2 Interacting proteins for RNFT1 (Q5M7Z0³ ENSP00000304670⁴) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
UBE2U	Q5VVX9³, ENSP00000360116⁴	I2D: score=2 STRING: ENSP00000360116
UBE2D2	P62837³, ENSP00000381717⁴	I2D: score=1 STRING: ENSP00000381717

About this table

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for RNFT1
Search CenterWatch for drugs/clinical trials and news about RNFT1

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
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About This Section

REFSEQ mRNAs for RNFT1 gene:

NM_016125.3

Unigene Cluster for RNFT1:

Ring finger protein, transmembrane 1

Hs.531701 [show with all ESTs]

Unigene Representative Sequence: NM_016125

10 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000305783(uc002iya.3 uc010wop.1) ENST00000482446(uc002iyb.3 uc002iyc.3)

ENST00000466544 ENST00000486103 ENST00000484257 ENST00000589113 ENST00000493737

ENST00000586083 ENST00000477207(uc002iyd.4) ENST00000442346

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Additional cDNA sequence:

AK098649.1 AK294806.1 AK295162.1 AK296197.1 BC088365.1

11 DOTS entries:

DT.97844506 DT.95279356 DT.95279361 DT.100821904 DT.95227814 DT.120910092 DT.100821898 DT.91685305

DT.100821890 DT.92435510 DT.91743637

24/166 AceView cDNA sequences (see all 166):

BQ002802 AA403320 AV682713 AI580029 AI539784 BI820813 BM719153 BX112906

BX280208 AA504491 BI908091 AA322970 AK098649 CB134346 AL541528 CD299940

N55014 CD244366 CR594569 BM683110 CD557858 BE958022 AI420315 BM480072

GeneLoc Exon Structure

5/6 Alternative Splicing Database (ASD) splice patterns (SP) for RNFT1 (see all 6) About this scheme

ExUns:	1	^	2	^	3	^	4	^	5	^	6	^	7	^	8	^	9a	·	9b	·	9c	^	10	^	11	^	12	^	13a	·	13b	·	13c	^	14	^	15	^	16	^	17
SP1:
SP2:
SP3:																											-
SP4:
SP5:

ECgene alternative splicing isoforms for RNFT1

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

RNFT1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TCCACTCTGC

About this image
See RNFT1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for RNFT1

SOURCE GeneReport for Unigene cluster: Hs.531701

SABiosciences Custom PCR Arrays for RNFT1

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In Situ
Assay Products:

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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of eukaryotes.

Orthologs for RNFT1 gene from 8/23 species (see all 23) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	RNFT1¹	ring finger protein, transmembrane 1	72.5(n) 70.23(a)		417638 XM_415883.3 XP_415883.1
lizard (Anolis carolinensis)	Reptilia	RNFT1⁶	--	60(a)	1 ↔ 1	GL343470.1(170352-181355)
African clawed frog (Xenopus laevis)	Amphibia	Xl.34003²	Xenopus laevis transcribed sequence with weak similarity more	76.52(n)		BJ063904.1
zebrafish (Danio rerio)	Actinopterygii	rnft1¹	ring finger protein, transmembrane 1	58.86(n) 54.22(a)		406509 NM_213228.1 NP_998393.1
fruit fly (Drosophila melanogaster)	Insecta	CG13605⁶	--	13(a)	1 → many	3R(19935666-19938124)
worm (Caenorhabditis elegans)	Secernentea	ZC13.1⁶	Protein ZC13.1, isoform b	17(a)	1 → many	X(877271-879811)
thale cress (Arabidopsis thaliana)	eudicotyledons	AT5G01960⁶	RING/U-box domain-containing protein	24(a)	1 → many	5(370400-372969)
rice (Oryza sativa)	Liliopsida	-- --	zinc finger, C3HC4 type family protein, expressed	23(a) 21(a)	many ↔ many many ↔ many	1(3500094-3503833) 5(14530436-14536343)

ENSEMBL Gene Tree for RNFT1 (if available)
TreeFam Gene Tree for RNFT1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for RNFT1 gene

RNFT2²

2 SIMAP similar genes for RNFT1 using alignment to 5 protein entries: RNFT1_HUMAN (see all proteins):

RNFT2 TRIM39

RNFT1 for paralogs About GeneDecksing

4 Pseudogenes.org Pseudogenes for RNFT1
PGOHUM00000259167 PGOHUM00000259168 PGOHUM00000244076 PGOHUM00000239983

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 17 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs185389493^1,2		--	58029284(+)	`ACCACA/GCTATC`	1	--	int¹		0	--	--	--	--
rs189704134^1,2		--	58029315(+)	`CAGTGC/TGAGCT`	1	--	int¹		0	--	--	--	--
rs182232915^1,2		--	58029376(+)	`GGAGAA/CGACTA`	1	--	int¹		0	--	--	--	--
rs140134307^1,2	C,	--	58029394(+)	`GGCAA-/TTTTTT`	1	--	int¹		0	--	--	--	--
rs187578879^1,2		--	58029418(+)	`GGCATC/TTGTCT`	1	--	int¹		0	--	--	--	--
rs143220868^1,2		--	58029598(+)	`CCAGC-/TGTT TGTTT`	1	--	int¹		0	--	--	--	--
rs191962499^1,2		--	58029608(+)	`TATAAC/TCCACA`	1	--	int¹		0	--	--	--	--
rs145623665^1,2		--	58029829(+)	`ATGTTA/CCTGAT`	1	--	ut3¹		0	--	--	--	--
rs183827874^1,2		--	58029840(+)	`AAAATA/GCAACA`	1	--	ut3¹		0	--	--	--	--
rs115215316^1,2	C,	--	58029995(+)	`AAACAA/TTGTCA`	1	--	ut3¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for RNFT1 (58029601 - 58042122 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 3 variations for RNFT1
2 CNVs: 0805 4044
1 Indel: 33311

SABiosciences Cancer Mutation PCR Assays

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

RNFT1 for disorders About GeneDecksing

1 disease for RNFT1: About MalaCards

sertoli cell-only syndrome

1 disease from the University of Copenhagen DISEASES database for RNFT1:

Sertoli cell-only syndrome

Human Genome Epidemiology (HuGE) Navigator: RNFT1 (3 documents)

Export disorders for RNFT1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for RNFT1 gene integrated from 9 sources:
(articles sorted by number of sources associating them with RNFT1)

Utopia: connect your pdf to the dynamic
world of online information

Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)^{1, 3} Strausberg R.L....Marra M.A. (2002)
A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)¹ Wagner S.A....Choudhary C. (2011)
Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)¹ Bailey S.D....Anand S. (2010)
Gene-centric association signals for lipids and apoli poproteins identified via the HumanCVD BeadChip. (PubMed id 19913121)¹ Talmud P.J.... . (2009)
A comprehensive framework of E2-RING E3 interactions of the human ubiquitin-proteasome system. (PubMed id 19690564)¹ van Wijk S.J....Timmers H.T. (2009)
DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. (PubMed id 16625196)² Zody M.C.... Nusbaum C. (2006)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)² Gerhard D.S....Malek J. (2004)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)² Ota T.... Sugano S. (2004)
Hepatitis C virus core protein interacts with 14-3-3 protein and activates the kinase Raf-1. (PubMed id )² Aoki H.... Hino O. (2000)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 51136	HGNC: 30206	AceView: LOC51136	Ensembl:ENSG00000189050	euGenes: HUgn51136
ECgene: RNFT1	H-InvDB: RNFT1

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for RNFT1	Pharmacogenomics, SNPs, Pathways

Intellectual Property for RNFT1 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for RNFT1 gene:
Search GeneIP for patents involving RNFT1

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
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GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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Category			VWF (GIFTS: 73) von Willebrand factor
GIFtS Group

The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

The GeneCards Human Gene Database

Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

Hot genes Disease genes RNFT1 gene at Home site.

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RNFT1 Gene

ring finger protein, transmembrane 1

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RNFT1 Gene

ring finger protein, transmembrane 1

Aliasesfor RNFT1 gene

Summariesfor RNFT1 gene

Genomic Viewsfor RNFT1 gene

Proteinsfor RNFT1 gene

Protein Domains /Familiesfor RNFT1 gene

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for RNFT1 gene

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for RNFT1 gene

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for RNFT1 gene

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for RNFT1 gene

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for RNFT1 gene

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for RNFT1 gene

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for RNFT1 gene

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for RNFT1 gene

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for RNFT1 gene

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for RNFT1 gene

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for RNFT1 gene

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for RNFT1 gene

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