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Q6ZRF8 (RN207_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 86. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
RING finger protein 207
Gene names
Name:RNF207
Synonyms:C1orf188
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length634 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Polymorphism

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.

Sequence similarities

Contains 1 B box-type zinc finger.

Contains 1 RING-type zinc finger.

Sequence caution

The sequence AAI28238.1 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainCoiled coil
Zinc-finger
   LigandMetal-binding
Zinc
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Cellular_componentintracellular

Inferred from electronic annotation. Source: InterPro

   Molecular_functionzinc ion binding

Inferred from electronic annotation. Source: InterPro

Complete GO annotation...

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q6ZRF8-1)

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.
Isoform 2 (identifier: Q6ZRF8-2)

The sequence of this isoform differs from the canonical sequence as follows:
     109-244: DVETTYFCNT...SAAEEEDAIH → AGAAGRVGEE...WGQHAVPSGL
     245-634: Missing.
Isoform 3 (identifier: Q6ZRF8-3)

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.
Isoform 4 (identifier: Q6ZRF8-4)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 634634RING finger protein 207
PRO_0000300809

Regions

Zinc finger25 – 6440RING-type
Zinc finger93 – 14553B box-type; atypical
Coiled coil422 – 45736 Potential
Coiled coil494 – 51825 Potential
Compositional bias353 – 3564Poly-Leu
Compositional bias362 – 3654Poly-Ala

Natural variations

Alternative sequence1 – 227227Missing in isoform 3 and isoform 4.
VSP_028439
Alternative sequence109 – 244136DVETT…EDAIH → AGAAGRVGEEQRVPGCTVPN ACTCTQHVFRGRPGSGFSST SLGHLGPKCEPHYTGGETEV QNKGLEPVSRQWQRLRPFDL GRAHWSPIQGGVVDLHRRGS PVCRPGPTLKGLCYPSGIEA ATAQGRWGQHAVPSGL in isoform 2.
VSP_027863
Alternative sequence245 – 634390Missing in isoform 2.
VSP_027864
Alternative sequence315 – 37157ELMER…GANTL → AGRGLRPQGADGAPLPLPSR KDVGVTRPKAHAAPVHQHQG AAGGGREHALRRALPPL in isoform 3.
VSP_028440
Alternative sequence372 – 634263Missing in isoform 3.
VSP_028441
Alternative sequence512 – 5198AQLHDLLQ → GSRQLAAE in isoform 4.
VSP_028442
Alternative sequence520 – 634115Missing in isoform 4.
VSP_028443
Natural variant4211A → T.
Corresponds to variant rs12073329 [ dbSNP | Ensembl ].
VAR_052112
Natural variant5391R → C.
Corresponds to variant rs55823245 [ dbSNP | Ensembl ].
VAR_061818
Natural variant5731N → S. Ref.5
Corresponds to variant rs709209 [ dbSNP | Ensembl ].
VAR_052113
Natural variant6031G → A. Ref.5
Corresponds to variant rs846111 [ dbSNP | Ensembl ].
VAR_052114

Experimental info

Sequence conflict3091F → L in BAB71243. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified September 11, 2007. Version 2.
Checksum: A434507E22D45AFF

FASTA63470,861
        10         20         30         40         50         60 
MSGAIFGPLE GPSSLDAPSI HPLVCPLCHV QYERPCLLDC FHDFCAGCLR GRATDGRLTC 

        70         80         90        100        110        120 
PLCQHQTVLK GPSGLPPVDR LLQFLVDSSG DGVEAVRCAN CDLECSEQDV ETTYFCNTCG 

       130        140        150        160        170        180 
QPLCARCRDE THRARMFARH DIVALGQRSR DVPQKCTLHA EPYLLFSTDK KLLLCIRCFR 

       190        200        210        220        230        240 
DMQKESRAHC VDLESAYVQG CERLEQAVLA VKALQTATRE AIALLQAMVE EVRHSAAEEE 

       250        260        270        280        290        300 
DAIHALFGSM QDRLAERKAL LLQAVQSQYE EKDKAFKEQL SHLATLLPTL QVHLVICSSF 

       310        320        330        340        350        360 
LSLANKAEFL DLGYELMERL QGIVTRPHHL RPIQSSKIAS DHRAEFARCL EPLLLLGPRR 

       370        380        390        400        410        420 
VAAAASGANT LAGGLGPKAL TGPHCPSPVG KMSGSPVQKP TLHRSISTKV LLAEGENTPF 

       430        440        450        460        470        480 
AEHCRHYEDS YRHLQAEMQS LKDQVQELHR DLTKHHSLIK AEIMGDVLHK SLQLDVQIAS 

       490        500        510        520        530        540 
EHASLEGMRV VFQEIWEEAY QRVANEQEIY EAQLHDLLQL RQENAYLTTI TKQITPYVRS 

       550        560        570        580        590        600 
IAKVKERLEP RFQAPVDEQS ESLQNTHDDS RNNAASARNN PGSVPEKREK TSEPKGNSWA 

       610        620        630 
PNGLSEEPLL KNMDHHRSKQ KNGGDVPTWR EHPT 

« Hide

Isoform 2 [UniParc].

Checksum: 19CDF0AE9954A78F
Show »

FASTA24425,956
Isoform 3 [UniParc].

Checksum: 9CC3704E7F73528B
Show »

FASTA14415,623
Isoform 4 [UniParc].

Checksum: 2E89FEADFF92B8E9
Show »

FASTA29232,622

References

« Hide 'large scale' references
[1]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2; 3 AND 4), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 392-634 (ISOFORM 1).
Tissue: Amygdala, Brain, Teratocarcinoma and Thymus.
[2]"The DNA sequence and biological annotation of human chromosome 1."
Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K. expand/collapse author list , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 4).
[4]"Common variants at ten loci influence QT interval duration in the QTGEN Study."
Newton-Cheh C., Eijgelsheim M., Rice K.M., de Bakker P.I., Yin X., Estrada K., Bis J.C., Marciante K., Rivadeneira F., Noseworthy P.A., Sotoodehnia N., Smith N.L., Rotter J.I., Kors J.A., Witteman J.C., Hofman A., Heckbert S.R., O'Donnell C.J. expand/collapse author list , Uitterlinden A.G., Psaty B.M., Lumley T., Larson M.G., Stricker B.H.
Nat. Genet. 41:399-406(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: ASSOCIATION WITH QT INTERVAL VARIANCE.
[5]"Common variants at ten loci modulate the QT interval duration in the QTSCD Study."
Pfeufer A., Sanna S., Arking D.E., Muller M., Gateva V., Fuchsberger C., Ehret G.B., Orru M., Pattaro C., Kottgen A., Perz S., Usala G., Barbalic M., Li M., Putz B., Scuteri A., Prineas R.J., Sinner M.F. expand/collapse author list , Gieger C., Najjar S.S., Kao W.H., Muhleisen T.W., Dei M., Happle C., Mohlenkamp S., Crisponi L., Erbel R., Jockel K.H., Naitza S., Steinbeck G., Marroni F., Hicks A.A., Lakatta E., Muller-Myhsok B., Pramstaller P.P., Wichmann H.E., Schlessinger D., Boerwinkle E., Meitinger T., Uda M., Coresh J., Kaab S., Abecasis G.R., Chakravarti A.
Nat. Genet. 41:407-414(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: ASSOCIATION WITH QT INTERVAL VARIANCE, VARIANTS SER-573 AND ALA-603.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_997279.2. NM_207396.2.
UniGeneHs.716549.

3D structure databases

ProteinModelPortalQ6ZRF8.
SMRQ6ZRF8. Positions 21-73, 94-193.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000367173.

PTM databases

PhosphoSiteQ6ZRF8.

Polymorphism databases

DMDM158563957.

Proteomic databases

PaxDbQ6ZRF8.
PRIDEQ6ZRF8.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000377939; ENSP00000367173; ENSG00000158286. [Q6ZRF8-1]
ENST00000377948; ENSP00000367183; ENSG00000158286. [Q6ZRF8-3]
GeneID388591.
KEGGhsa:388591.
UCSCuc001amf.1. human. [Q6ZRF8-2]
uc001amg.3. human. [Q6ZRF8-1]

Organism-specific databases

CTD388591.
GeneCardsGC01P006265.
H-InvDBHIX0000075.
HGNCHGNC:32947. RNF207.
HPAHPA028378.
neXtProtNX_Q6ZRF8.
PharmGKBPA145148144.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG122723.
HOGENOMHOG000154160.
HOVERGENHBG096720.
InParanoidQ6ZRF8.
OMAQSSKIAS.
OrthoDBEOG747PH8.
PhylomeDBQ6ZRF8.
TreeFamTF318184.

Gene expression databases

BgeeQ6ZRF8.
CleanExHS_RNF207.
GenevestigatorQ6ZRF8.

Family and domain databases

Gene3D3.30.40.10. 1 hit.
InterProIPR000315. Znf_B-box.
IPR018957. Znf_C3HC4_RING-type.
IPR001841. Znf_RING.
IPR013083. Znf_RING/FYVE/PHD.
IPR017907. Znf_RING_CS.
[Graphical view]
PfamPF00643. zf-B_box. 1 hit.
PF00097. zf-C3HC4. 1 hit.
[Graphical view]
SMARTSM00184. RING. 1 hit.
[Graphical view]
PROSITEPS50119. ZF_BBOX. 1 hit.
PS00518. ZF_RING_1. 1 hit.
PS50089. ZF_RING_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi388591.
NextBio102203.
PROQ6ZRF8.

Entry information

Entry nameRN207_HUMAN
AccessionPrimary (citable) accession number: Q6ZRF8
Secondary accession number(s): A2VCM8 expand/collapse secondary AC list , B4DFR6, Q5TGS6, Q6ZS63, Q96MP2
Entry history
Integrated into UniProtKB/Swiss-Prot: September 11, 2007
Last sequence update: September 11, 2007
Last modified: April 16, 2014
This is version 86 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 1

Human chromosome 1: entries, gene names and cross-references to MIM