Q6ZRF8 (RN207_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
RING finger protein 207

Gene names

Name:	RNF207
Synonyms:	C1orf188

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	634 AA.
Sequence status	Complete.
Protein existence	Evidence 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 diversity	Alternative splicing Polymorphism
Domain	Coiled coil Zinc-finger
Ligand	Metal-binding Zinc
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Cellular_component	intracellular Inferred from electronic annotation. Source: InterPro
Molecular_function	zinc 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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 634	634	RING finger protein 207		PRO_0000300809
Regions
	Zinc finger	25 – 64	40	RING-type
	Zinc finger	93 – 145	53	B box-type; atypical
	Coiled coil	422 – 457	36	Potential
	Coiled coil	494 – 518	25	Potential
	Compositional bias	353 – 356	4	Poly-Leu
	Compositional bias	362 – 365	4	Poly-Ala
Natural variations
	Alternative sequence	1 – 227	227	Missing in isoform 3 and isoform 4.		VSP_028439
	Alternative sequence	109 – 244	136	DVETT…EDAIH → AGAAGRVGEEQRVPGCTVPN ACTCTQHVFRGRPGSGFSST SLGHLGPKCEPHYTGGETEV QNKGLEPVSRQWQRLRPFDL GRAHWSPIQGGVVDLHRRGS PVCRPGPTLKGLCYPSGIEA ATAQGRWGQHAVPSGL in isoform 2.		VSP_027863
	Alternative sequence	245 – 634	390	Missing in isoform 2.		VSP_027864
	Alternative sequence	315 – 371	57	ELMER…GANTL → AGRGLRPQGADGAPLPLPSR KDVGVTRPKAHAAPVHQHQG AAGGGREHALRRALPPL in isoform 3.		VSP_028440
	Alternative sequence	372 – 634	263	Missing in isoform 3.		VSP_028441
	Alternative sequence	512 – 519	8	AQLHDLLQ → GSRQLAAE in isoform 4.		VSP_028442
	Alternative sequence	520 – 634	115	Missing in isoform 4.		VSP_028443
	Natural variant	421	1	A → T. Corresponds to variant rs12073329 [ dbSNP | Ensembl ].		VAR_052112
	Natural variant	539	1	R → C. Corresponds to variant rs55823245 [ dbSNP | Ensembl ].		VAR_061818
	Natural variant	573	1	N → S. Ref.5 Corresponds to variant rs709209 [ dbSNP | Ensembl ].		VAR_052113
	Natural variant	603	1	G → A. Ref.5 Corresponds to variant rs846111 [ dbSNP | Ensembl ].		VAR_052114
Experimental info
	Sequence conflict	309	1	F → L in BAB71243. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified September 11, 2007. Version 2. Checksum: A434507E22D45AFF	FASTA	634	70,861
	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
	Isoform 2 [UniParc]. Checksum: 19CDF0AE9954A78F	FASTA	244	25,956
	10 20 30 40 50 60 MSGAIFGPLE GPSSLDAPSI HPLVCPLCHV QYERPCLLDC FHDFCAGCLR GRATDGRLTC 70 80 90 100 110 120 PLCQHQTVLK GPSGLPPVDR LLQFLVDSSG DGVEAVRCAN CDLECSEQAG AAGRVGEEQR 130 140 150 160 170 180 VPGCTVPNAC TCTQHVFRGR PGSGFSSTSL GHLGPKCEPH YTGGETEVQN KGLEPVSRQW 190 200 210 220 230 240 QRLRPFDLGR AHWSPIQGGV VDLHRRGSPV CRPGPTLKGL CYPSGIEAAT AQGRWGQHAV PSGL
	Isoform 3 [UniParc]. Checksum: 9CC3704E7F73528B	FASTA	144	15,623
	10 20 30 40 50 60 MVEEVRHSAA EEEDAIHALF GSMQDRLAER KALLLQAVQS QYEEKDKAFK EQLSHLATLL 70 80 90 100 110 120 PTLQVHLVIC SSFLSLANKA EFLDLGYAGR GLRPQGADGA PLPLPSRKDV GVTRPKAHAA 130 140 PVHQHQGAAG GGREHALRRA LPPL
	Isoform 4 [UniParc]. Checksum: 2E89FEADFF92B8E9	FASTA	292	32,622
	10 20 30 40 50 60 MVEEVRHSAA EEEDAIHALF GSMQDRLAER KALLLQAVQS QYEEKDKAFK EQLSHLATLL 70 80 90 100 110 120 PTLQVHLVIC SSFLSLANKA EFLDLGYELM ERLQGIVTRP HHLRPIQSSK IASDHRAEFA 130 140 150 160 170 180 RCLEPLLLLG PRRVAAAASG ANTLAGGLGP KALTGPHCPS PVGKMSGSPV QKPTLHRSIS 190 200 210 220 230 240 TKVLLAEGEN TPFAEHCRHY EDSYRHLQAE MQSLKDQVQE LHRDLTKHHS LIKAEIMGDV 250 260 270 280 290 LHKSLQLDVQ IASEHASLEG MRVVFQEIWE EAYQRVANEQ EIYEGSRQLA AE

References

	« Hide 'large scale' referencesShow '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. , 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]	"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. , 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. , 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.
IPI	IPI00043236. IPI00397747. IPI00830073. IPI00867610.
RefSeq	NP_997279.2. NM_207396.2.
UniGene	Hs.716549.
3D structure databases
ProteinModelPortal	Q6ZRF8.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000367173.
PTM databases
PhosphoSite	Q6ZRF8.
Polymorphism databases
DMDM	158563957.
Proteomic databases
PaxDb	Q6ZRF8.
PRIDE	Q6ZRF8.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000377939; ENSP00000367173; ENSG00000158286. ENST00000377948; ENSP00000367183; ENSG00000158286.
GeneID	388591.
KEGG	hsa:388591.
UCSC	uc001amf.1. human. uc001amg.3. human.
Organism-specific databases
CTD	388591.
GeneCards	GC01P006265.
H-InvDB	HIX0000075.
HGNC	HGNC:32947. RNF207.
HPA	HPA028378.
neXtProt	NX_Q6ZRF8.
PharmGKB	PA145148144.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG122723.
HOGENOM	HOG000154160.
HOVERGEN	HBG096720.
InParanoid	Q6ZRF8.
OMA	QSSKIAS.
OrthoDB	EOG4QVCBS.
Gene expression databases
Bgee	Q6ZRF8.
CleanEx	HS_RNF207.
Genevestigator	Q6ZRF8.
Family and domain databases
Gene3D	3.30.40.10. 1 hit.
InterPro	IPR000315. Znf_B-box. IPR018957. Znf_C3HC4_RING-type. IPR001841. Znf_RING. IPR013083. Znf_RING/FYVE/PHD. IPR017907. Znf_RING_CS. [Graphical view]
Pfam	PF00643. zf-B_box. 1 hit. PF00097. zf-C3HC4. 1 hit. [Graphical view]
SMART	SM00184. RING. 1 hit. [Graphical view]
PROSITE	PS50119. ZF_BBOX. 1 hit. PS00518. ZF_RING_1. 1 hit. PS50089. ZF_RING_2. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	388591.
NextBio	102203.

Entry information

Entry name

RN207_HUMAN

Accession

Primary (citable) accession number: Q6ZRF8
Secondary accession number(s): A2VCM8 , B4DFR6, Q5TGS6, Q6ZS63, Q96MP2

Entry history

Integrated into UniProtKB/Swiss-Prot:	September 11, 2007
Last sequence update:	September 11, 2007
Last modified:	May 1, 2013
This is version 78 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.