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Protein

RING finger protein 207

Gene

RNF207

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Plays a role in cardiac repolarization possibly by stabilizing membrane expression of the potassium channel KCNH2/HERG, or by assisting its synthesis, folding or export from the endoplasmic reticulum, in a heat shock protein-dependent manner.1 Publication

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri25 – 64RING-typePROSITE-ProRule annotationAdd BLAST40
Zinc fingeri93 – 145B box-type; atypicalPROSITE-ProRule annotationAdd BLAST53

GO - Molecular functioni

  • chaperone binding Source: BHF-UCL
  • Hsp70 protein binding Source: BHF-UCL
  • ion channel binding Source: BHF-UCL
  • zinc ion binding Source: InterPro

GO - Biological processi

Complete GO annotation...

Keywords - Ligandi

Metal-binding, Zinc

Names & Taxonomyi

Protein namesi
Recommended name:
RING finger protein 207
Gene namesi
Name:RNF207
Synonyms:C1orf188
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

HGNCiHGNC:32947. RNF207.

Subcellular locationi

GO - Cellular componenti

  • perinuclear region of cytoplasm Source: BHF-UCL
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi25C → R: Loss of KCNH2 up-regulation. 1 Publication1

Organism-specific databases

DisGeNETi388591.
OpenTargetsiENSG00000158286.
PharmGKBiPA145148144.

Polymorphism and mutation databases

BioMutaiRNF207.
DMDMi158563957.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003008091 – 634RING finger protein 207Add BLAST634

Proteomic databases

PaxDbiQ6ZRF8.
PeptideAtlasiQ6ZRF8.
PRIDEiQ6ZRF8.

PTM databases

iPTMnetiQ6ZRF8.
PhosphoSitePlusiQ6ZRF8.

Expressioni

Gene expression databases

BgeeiENSG00000158286.
CleanExiHS_RNF207.
GenevisibleiQ6ZRF8. HS.

Organism-specific databases

HPAiHPA028378.
HPA042535.

Interactioni

Subunit structurei

Interacts with the core-glycosylated, but not the fully glycosylated form of KCNH2/HERG. Interacts with DNAJA1 and HSPA8. Interacts (via the C-terminus) with HSPA1A; this interaction additively increases KCNH2 expression.1 Publication

GO - Molecular functioni

  • chaperone binding Source: BHF-UCL
  • Hsp70 protein binding Source: BHF-UCL
  • ion channel binding Source: BHF-UCL

Protein-protein interaction databases

BioGridi132764. 4 interactors.
STRINGi9606.ENSP00000367173.

Structurei

3D structure databases

ProteinModelPortaliQ6ZRF8.
SMRiQ6ZRF8.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili422 – 457Sequence analysisAdd BLAST36
Coiled coili494 – 518Sequence analysisAdd BLAST25

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi353 – 356Poly-Leu4
Compositional biasi362 – 365Poly-Ala4

Sequence similaritiesi

Contains 1 B box-type zinc finger.PROSITE-ProRule annotation
Contains 1 RING-type zinc finger.PROSITE-ProRule annotation

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri25 – 64RING-typePROSITE-ProRule annotationAdd BLAST40
Zinc fingeri93 – 145B box-type; atypicalPROSITE-ProRule annotationAdd BLAST53

Keywords - Domaini

Coiled coil, Zinc-finger

Phylogenomic databases

eggNOGiENOG410ITFA. Eukaryota.
ENOG410XRSW. LUCA.
GeneTreeiENSGT00510000048612.
HOGENOMiHOG000154160.
HOVERGENiHBG096720.
InParanoidiQ6ZRF8.
OMAiSKINTEY.
OrthoDBiEOG091G02LM.
PhylomeDBiQ6ZRF8.
TreeFamiTF318184.

Family and domain databases

Gene3Di3.30.40.10. 1 hit.
InterProiIPR000315. Znf_B-box.
IPR018957. Znf_C3HC4_RING-type.
IPR001841. Znf_RING.
IPR013083. Znf_RING/FYVE/PHD.
IPR017907. Znf_RING_CS.
[Graphical view]
PfamiPF00643. zf-B_box. 1 hit.
PF00097. zf-C3HC4. 1 hit.
[Graphical view]
SMARTiSM00184. RING. 1 hit.
[Graphical view]
PROSITEiPS50119. ZF_BBOX. 1 hit.
PS00518. ZF_RING_1. 1 hit.
PS50089. ZF_RING_2. 1 hit.
[Graphical view]

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q6ZRF8-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MSGAIFGPLE GPSSLDAPSI HPLVCPLCHV QYERPCLLDC FHDFCAGCLR
60 70 80 90 100
GRATDGRLTC PLCQHQTVLK GPSGLPPVDR LLQFLVDSSG DGVEAVRCAN
110 120 130 140 150
CDLECSEQDV ETTYFCNTCG QPLCARCRDE THRARMFARH DIVALGQRSR
160 170 180 190 200
DVPQKCTLHA EPYLLFSTDK KLLLCIRCFR DMQKESRAHC VDLESAYVQG
210 220 230 240 250
CERLEQAVLA VKALQTATRE AIALLQAMVE EVRHSAAEEE DAIHALFGSM
260 270 280 290 300
QDRLAERKAL LLQAVQSQYE EKDKAFKEQL SHLATLLPTL QVHLVICSSF
310 320 330 340 350
LSLANKAEFL DLGYELMERL QGIVTRPHHL RPIQSSKIAS DHRAEFARCL
360 370 380 390 400
EPLLLLGPRR VAAAASGANT LAGGLGPKAL TGPHCPSPVG KMSGSPVQKP
410 420 430 440 450
TLHRSISTKV LLAEGENTPF AEHCRHYEDS YRHLQAEMQS LKDQVQELHR
460 470 480 490 500
DLTKHHSLIK AEIMGDVLHK SLQLDVQIAS EHASLEGMRV VFQEIWEEAY
510 520 530 540 550
QRVANEQEIY EAQLHDLLQL RQENAYLTTI TKQITPYVRS IAKVKERLEP
560 570 580 590 600
RFQAPVDEQS ESLQNTHDDS RNNAASARNN PGSVPEKREK TSEPKGNSWA
610 620 630
PNGLSEEPLL KNMDHHRSKQ KNGGDVPTWR EHPT
Length:634
Mass (Da):70,861
Last modified:September 11, 2007 - v2
Checksum:iA434507E22D45AFF
GO
Isoform 2 (identifier: Q6ZRF8-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     109-244: DVETTYFCNT...SAAEEEDAIH → AGAAGRVGEE...WGQHAVPSGL
     245-634: Missing.

Show »
Length:244
Mass (Da):25,956
Checksum:i19CDF0AE9954A78F
GO
Isoform 3 (identifier: Q6ZRF8-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-227: Missing.
     315-371: ELMERLQGIV...AAAASGANTL → AGRGLRPQGA...HALRRALPPL
     372-634: Missing.

Note: No experimental confirmation available.
Show »
Length:144
Mass (Da):15,623
Checksum:i9CC3704E7F73528B
GO
Isoform 4 (identifier: Q6ZRF8-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-227: Missing.
     512-519: AQLHDLLQ → GSRQLAAE
     520-634: Missing.

Show »
Length:292
Mass (Da):32,622
Checksum:i2E89FEADFF92B8E9
GO

Sequence cautioni

The sequence AAI28238 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti309F → L in BAB71243 (PubMed:14702039).Curated1

Polymorphismi

Genetic variation in RNF207 may influence the duration of QT interval, a mesure of cardiac repolarization that depends on multiple environmental and genetic contributors. Prolonged or shortened QT intervals predisposes to ventricular arrhythmias and are a risk factor for sudden cardiac death.

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_052112421A → T.Corresponds to variant rs12073329dbSNPEnsembl.1
Natural variantiVAR_061818539R → C.Corresponds to variant rs55823245dbSNPEnsembl.1
Natural variantiVAR_052113573N → S.1 PublicationCorresponds to variant rs709209dbSNPEnsembl.1
Natural variantiVAR_052114603G → A Associated with prolonged QT interval in heart's electrical cycle; behaves like wild-type in terms of protein expression, subcellular location and shortening of heart's action potential duration, when expressed in neonatal rabbit cardiomyocytes. 2 PublicationsCorresponds to variant rs846111dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0284391 – 227Missing in isoform 3 and isoform 4. 2 PublicationsAdd BLAST227
Alternative sequenceiVSP_027863109 – 244DVETT…EDAIH → AGAAGRVGEEQRVPGCTVPN ACTCTQHVFRGRPGSGFSST SLGHLGPKCEPHYTGGETEV QNKGLEPVSRQWQRLRPFDL GRAHWSPIQGGVVDLHRRGS PVCRPGPTLKGLCYPSGIEA ATAQGRWGQHAVPSGL in isoform 2. 2 PublicationsAdd BLAST136
Alternative sequenceiVSP_027864245 – 634Missing in isoform 2. 2 PublicationsAdd BLAST390
Alternative sequenceiVSP_028440315 – 371ELMER…GANTL → AGRGLRPQGADGAPLPLPSR KDVGVTRPKAHAAPVHQHQG AAGGGREHALRRALPPL in isoform 3. 1 PublicationAdd BLAST57
Alternative sequenceiVSP_028441372 – 634Missing in isoform 3. 1 PublicationAdd BLAST263
Alternative sequenceiVSP_028442512 – 519AQLHDLLQ → GSRQLAAE in isoform 4. 2 Publications8
Alternative sequenceiVSP_028443520 – 634Missing in isoform 4. 2 PublicationsAdd BLAST115

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK056658 mRNA. Translation: BAB71243.1.
AK127700 mRNA. Translation: BAC87091.1.
AK128246 mRNA. Translation: BAC87352.1.
AK294223 mRNA. Translation: BAG57527.1.
AL031847 Genomic DNA. Translation: CAI19444.2.
BC119780 mRNA. Translation: AAI19781.1.
BC128237 mRNA. Translation: AAI28238.1. Different initiation.
CCDSiCCDS59.2. [Q6ZRF8-1]
RefSeqiNP_997279.2. NM_207396.2. [Q6ZRF8-1]
UniGeneiHs.716549.

Genome annotation databases

EnsembliENST00000377939; ENSP00000367173; ENSG00000158286. [Q6ZRF8-1]
GeneIDi388591.
KEGGihsa:388591.
UCSCiuc001amg.4. human. [Q6ZRF8-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK056658 mRNA. Translation: BAB71243.1.
AK127700 mRNA. Translation: BAC87091.1.
AK128246 mRNA. Translation: BAC87352.1.
AK294223 mRNA. Translation: BAG57527.1.
AL031847 Genomic DNA. Translation: CAI19444.2.
BC119780 mRNA. Translation: AAI19781.1.
BC128237 mRNA. Translation: AAI28238.1. Different initiation.
CCDSiCCDS59.2. [Q6ZRF8-1]
RefSeqiNP_997279.2. NM_207396.2. [Q6ZRF8-1]
UniGeneiHs.716549.

3D structure databases

ProteinModelPortaliQ6ZRF8.
SMRiQ6ZRF8.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi132764. 4 interactors.
STRINGi9606.ENSP00000367173.

PTM databases

iPTMnetiQ6ZRF8.
PhosphoSitePlusiQ6ZRF8.

Polymorphism and mutation databases

BioMutaiRNF207.
DMDMi158563957.

Proteomic databases

PaxDbiQ6ZRF8.
PeptideAtlasiQ6ZRF8.
PRIDEiQ6ZRF8.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000377939; ENSP00000367173; ENSG00000158286. [Q6ZRF8-1]
GeneIDi388591.
KEGGihsa:388591.
UCSCiuc001amg.4. human. [Q6ZRF8-1]

Organism-specific databases

CTDi388591.
DisGeNETi388591.
GeneCardsiRNF207.
H-InvDBHIX0000075.
HGNCiHGNC:32947. RNF207.
HPAiHPA028378.
HPA042535.
MIMi616923. gene.
neXtProtiNX_Q6ZRF8.
OpenTargetsiENSG00000158286.
PharmGKBiPA145148144.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410ITFA. Eukaryota.
ENOG410XRSW. LUCA.
GeneTreeiENSGT00510000048612.
HOGENOMiHOG000154160.
HOVERGENiHBG096720.
InParanoidiQ6ZRF8.
OMAiSKINTEY.
OrthoDBiEOG091G02LM.
PhylomeDBiQ6ZRF8.
TreeFamiTF318184.

Miscellaneous databases

GenomeRNAii388591.
PROiQ6ZRF8.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000158286.
CleanExiHS_RNF207.
GenevisibleiQ6ZRF8. HS.

Family and domain databases

Gene3Di3.30.40.10. 1 hit.
InterProiIPR000315. Znf_B-box.
IPR018957. Znf_C3HC4_RING-type.
IPR001841. Znf_RING.
IPR013083. Znf_RING/FYVE/PHD.
IPR017907. Znf_RING_CS.
[Graphical view]
PfamiPF00643. zf-B_box. 1 hit.
PF00097. zf-C3HC4. 1 hit.
[Graphical view]
SMARTiSM00184. RING. 1 hit.
[Graphical view]
PROSITEiPS50119. ZF_BBOX. 1 hit.
PS00518. ZF_RING_1. 1 hit.
PS50089. ZF_RING_2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiRN207_HUMAN
AccessioniPrimary (citable) accession number: Q6ZRF8
Secondary accession number(s): A2VCM8
, B4DFR6, Q5TGS6, Q6ZS63, Q96MP2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: September 11, 2007
Last sequence update: September 11, 2007
Last modified: November 2, 2016
This is version 107 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.