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Q6ZRF8

- RN207_HUMAN

UniProt

Q6ZRF8 - RN207_HUMAN

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Protein
RING finger protein 207
Gene
RNF207, C1orf188
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5 - Experimental evidence at transcript leveli

Functioni

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Zinc fingeri25 – 6440RING-type
Add
BLAST
Zinc fingeri93 – 14553B box-type; atypical
Add
BLAST

GO - Molecular functioni

  1. zinc ion binding Source: InterPro
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
ProteomesiUP000005640: Chromosome 1

Organism-specific databases

HGNCiHGNC:32947. RNF207.

Subcellular locationi

GO - Cellular componenti

  1. intracellular Source: InterPro
Complete GO annotation...

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA145148144.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 634634RING finger protein 207
PRO_0000300809Add
BLAST

Proteomic databases

PaxDbiQ6ZRF8.
PRIDEiQ6ZRF8.

PTM databases

PhosphoSiteiQ6ZRF8.

Expressioni

Gene expression databases

BgeeiQ6ZRF8.
CleanExiHS_RNF207.
GenevestigatoriQ6ZRF8.

Organism-specific databases

HPAiHPA028378.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000367173.

Structurei

3D structure databases

ProteinModelPortaliQ6ZRF8.
SMRiQ6ZRF8. Positions 19-68.

Family & Domainsi

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili422 – 45736 Reviewed prediction
Add
BLAST
Coiled coili494 – 51825 Reviewed prediction
Add
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi353 – 3564Poly-Leu
Compositional biasi362 – 3654Poly-Ala

Sequence similaritiesi

Keywords - Domaini

Coiled coil, Zinc-finger

Phylogenomic databases

eggNOGiNOG122723.
HOGENOMiHOG000154160.
HOVERGENiHBG096720.
InParanoidiQ6ZRF8.
OMAiQSSKIAS.
OrthoDBiEOG747PH8.
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. Align

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

MSGAIFGPLE GPSSLDAPSI HPLVCPLCHV QYERPCLLDC FHDFCAGCLR    50
GRATDGRLTC PLCQHQTVLK GPSGLPPVDR LLQFLVDSSG DGVEAVRCAN 100
CDLECSEQDV ETTYFCNTCG QPLCARCRDE THRARMFARH DIVALGQRSR 150
DVPQKCTLHA EPYLLFSTDK KLLLCIRCFR DMQKESRAHC VDLESAYVQG 200
CERLEQAVLA VKALQTATRE AIALLQAMVE EVRHSAAEEE DAIHALFGSM 250
QDRLAERKAL LLQAVQSQYE EKDKAFKEQL SHLATLLPTL QVHLVICSSF 300
LSLANKAEFL DLGYELMERL QGIVTRPHHL RPIQSSKIAS DHRAEFARCL 350
EPLLLLGPRR VAAAASGANT LAGGLGPKAL TGPHCPSPVG KMSGSPVQKP 400
TLHRSISTKV LLAEGENTPF AEHCRHYEDS YRHLQAEMQS LKDQVQELHR 450
DLTKHHSLIK AEIMGDVLHK SLQLDVQIAS EHASLEGMRV VFQEIWEEAY 500
QRVANEQEIY EAQLHDLLQL RQENAYLTTI TKQITPYVRS IAKVKERLEP 550
RFQAPVDEQS ESLQNTHDDS RNNAASARNN PGSVPEKREK TSEPKGNSWA 600
PNGLSEEPLL KNMDHHRSKQ KNGGDVPTWR EHPT 634
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 AAI28238.1 differs from that shown. Reason: Erroneous initiation.

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti421 – 4211A → T.
Corresponds to variant rs12073329 [ dbSNP | Ensembl ].
VAR_052112
Natural varianti539 – 5391R → C.
Corresponds to variant rs55823245 [ dbSNP | Ensembl ].
VAR_061818
Natural varianti573 – 5731N → S.1 Publication
Corresponds to variant rs709209 [ dbSNP | Ensembl ].
VAR_052113
Natural varianti603 – 6031G → A.1 Publication
Corresponds to variant rs846111 [ dbSNP | Ensembl ].
VAR_052114

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 227227Missing in isoform 3 and isoform 4.
VSP_028439Add
BLAST
Alternative sequencei109 – 244136DVETT…EDAIH → AGAAGRVGEEQRVPGCTVPN ACTCTQHVFRGRPGSGFSST SLGHLGPKCEPHYTGGETEV QNKGLEPVSRQWQRLRPFDL GRAHWSPIQGGVVDLHRRGS PVCRPGPTLKGLCYPSGIEA ATAQGRWGQHAVPSGL in isoform 2.
VSP_027863Add
BLAST
Alternative sequencei245 – 634390Missing in isoform 2.
VSP_027864Add
BLAST
Alternative sequencei315 – 37157ELMER…GANTL → AGRGLRPQGADGAPLPLPSR KDVGVTRPKAHAAPVHQHQG AAGGGREHALRRALPPL in isoform 3.
VSP_028440Add
BLAST
Alternative sequencei372 – 634263Missing in isoform 3.
VSP_028441Add
BLAST
Alternative sequencei512 – 5198AQLHDLLQ → GSRQLAAE in isoform 4.
VSP_028442
Alternative sequencei520 – 634115Missing in isoform 4.
VSP_028443Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti309 – 3091F → L in BAB71243. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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]
ENST00000377948; ENSP00000367183; ENSG00000158286. [Q6ZRF8-3]
GeneIDi388591.
KEGGihsa:388591.
UCSCiuc001amf.1. human. [Q6ZRF8-2]
uc001amg.3. human. [Q6ZRF8-1]

Polymorphism databases

DMDMi158563957.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.
CCDSi CCDS59.2. [Q6ZRF8-1 ]
RefSeqi NP_997279.2. NM_207396.2. [Q6ZRF8-1 ]
UniGenei Hs.716549.

3D structure databases

ProteinModelPortali Q6ZRF8.
SMRi Q6ZRF8. Positions 19-68.
ModBasei Search...

Protein-protein interaction databases

STRINGi 9606.ENSP00000367173.

PTM databases

PhosphoSitei Q6ZRF8.

Polymorphism databases

DMDMi 158563957.

Proteomic databases

PaxDbi Q6ZRF8.
PRIDEi Q6ZRF8.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000377939 ; ENSP00000367173 ; ENSG00000158286 . [Q6ZRF8-1 ]
ENST00000377948 ; ENSP00000367183 ; ENSG00000158286 . [Q6ZRF8-3 ]
GeneIDi 388591.
KEGGi hsa:388591.
UCSCi uc001amf.1. human. [Q6ZRF8-2 ]
uc001amg.3. human. [Q6ZRF8-1 ]

Organism-specific databases

CTDi 388591.
GeneCardsi GC01P006265.
H-InvDB HIX0000075.
HGNCi HGNC:32947. RNF207.
HPAi HPA028378.
neXtProti NX_Q6ZRF8.
PharmGKBi PA145148144.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG122723.
HOGENOMi HOG000154160.
HOVERGENi HBG096720.
InParanoidi Q6ZRF8.
OMAi QSSKIAS.
OrthoDBi EOG747PH8.
PhylomeDBi Q6ZRF8.
TreeFami TF318184.

Miscellaneous databases

GenomeRNAii 388591.
NextBioi 102203.
PROi Q6ZRF8.

Gene expression databases

Bgeei Q6ZRF8.
CleanExi HS_RNF207.
Genevestigatori Q6ZRF8.

Family and domain databases

Gene3Di 3.30.40.10. 1 hit.
InterProi IPR000315. Znf_B-box.
IPR018957. Znf_C3HC4_RING-type.
IPR001841. Znf_RING.
IPR013083. Znf_RING/FYVE/PHD.
IPR017907. Znf_RING_CS.
[Graphical view ]
Pfami PF00643. zf-B_box. 1 hit.
PF00097. zf-C3HC4. 1 hit.
[Graphical view ]
SMARTi SM00184. RING. 1 hit.
[Graphical view ]
PROSITEi PS50119. ZF_BBOX. 1 hit.
PS00518. ZF_RING_1. 1 hit.
PS50089. ZF_RING_2. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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.
    , 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.
    , 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. Cited for: ASSOCIATION WITH QT INTERVAL VARIANCE.
  5. Cited for: ASSOCIATION WITH QT INTERVAL VARIANCE, VARIANTS SER-573 AND ALA-603.

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: July 9, 2014
This is version 89 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. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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