Reviewed, UniProtKB/Swiss-Prot Q49A92 (CH034_HUMAN)

Names and origin

Protein names

Recommended name:
    Uncharacterized protein C8orf34
Alternative name(s):
    Protein VEST-1

Gene names

Name:

C8orf34

Organism

Homo sapiens (Human) [Complete proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	452 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at protein level.

General annotation (Comments)

Sequence caution

The sequence AAH41961.1 differs from that shown. Reason: Frameshift at position 429.

Ontologies

Keywords
Coding sequence diversity	Alternative splicing Polymorphism
PTM	Phosphoprotein
Technical term	Complete proteome
Gene Ontology (GO)
None. [Check GOA]

Alternative products

This entry describes 5 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q49A92-1) 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.
Note: No experimental confirmation available.
Isoform 2 (identifier: Q49A92-2) The sequence of this isoform differs from the canonical sequence as follows:      1-25: Missing.
Note: No experimental confirmation available.
Isoform 3 (identifier: Q49A92-3) The sequence of this isoform differs from the canonical sequence as follows:      283-287: EDLND → GNFKD      288-452: Missing.
Sequence annotation (Features)
	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
	Sequence conflict	287	1	D → N in CAD39114. Ref.3
Isoform 4 (identifier: Q49A92-4) The sequence of this isoform differs from the canonical sequence as follows:      1-256: Missing.      257-282: FESIHSPTPSVTEEDIDNEDDAMELL → MENGFTMCQTGRQHPVACGLHLSGGK      431-452: RSADLLLCVPCSSCPTLVYSGL → HLLNQNLCGWDSEFCIFHTLASFLIYK
Note: No experimental confirmation available.
Isoform 5 (identifier: Q49A92-5) The sequence of this isoform differs from the canonical sequence as follows:      117-129: LPRSVEHPKWNWR → CKEVSYSNAIQSM      130-452: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 452	452	Uncharacterized protein C8orf34		PRO_0000330039
Amino acid modifications
	Modified residue	111	1	Phosphoserine
Natural variations
	Alternative sequence	1 – 256	256	Missing in isoform 4.		VSP_033008
	Alternative sequence	1 – 25	25	Missing in isoform 2.		VSP_033009
	Alternative sequence	117 – 129	13	LPRSV…KWNWR → CKEVSYSNAIQSM in isoform 5.		VSP_033010
	Alternative sequence	130 – 452	323	Missing in isoform 5.		VSP_033011
	Alternative sequence	257 – 282	26	FESIH…AMELL → MENGFTMCQTGRQHPVACGL HLSGGK in isoform 4.		VSP_033012
	Alternative sequence	283 – 287	5	EDLND → GNFKD in isoform 3.		VSP_033013
	Alternative sequence	288 – 452	165	Missing in isoform 3.		VSP_033014
	Alternative sequence	431 – 452	22	RSADL…VYSGL → HLLNQNLCGWDSEFCIFHTL ASFLIYK in isoform 4.		VSP_033015
	Natural variant	75	1	K → N in a colorectal cancer sample; somatic mutation. Ref.7		VAR_042690
	Natural variant	426	1	A → T: dbSNP rs16935065. Ref.5		VAR_042691

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified April 29, 2008. Version 2. Checksum: F8406AA2DAA1FE8D	FASTA	452	50,489
	10 20 30 40 50 60 MASHPQTRIQ AYLEKNKIGP LFEELMTKLI TETPDQPIPF LIDHLQSKQG NRGQLQRTLS 70 80 90 100 110 120 GSAALWAESE KSESKGTRRD FRSYDKPWQL NAKKPKKSKS DLAVSNISPP SPDSKSLPRS 130 140 150 160 170 180 VEHPKWNWRT KPQSRDFDEL NHILQESKKL GKALENLSRS IAISDELDKE TVTFNSSLLR 190 200 210 220 230 240 PRVIGEWIGR EENDADPLAA EMLQPPIPRS KNDQWESEDS GSSPAGSLKM EPKNKGLKQQ 250 260 270 280 290 300 QQQHKKLLAA MLSQDSFESI HSPTPSVTEE DIDNEDDAME LLEDLNDLRM EGVTTLVPSG 310 320 330 340 350 360 SKFNQGRPTY PAEPQAKVTL NICSRCARLQ GDNLEERTEE SLPILHSPDE KIPDSFDSLP 370 380 390 400 410 420 GTEEALMEEG DEFEKASKLT GPGEASSGVG HSLKNYMEED ESLKQLQVVH QPWILPSDTE 430 440 450 SEGVEAEQEK RSADLLLCVP CSSCPTLVYS GL
	Isoform 2. Checksum: A75B18021FA45BAB	FASTA	427	47,593
	10 20 30 40 50 60 MTKLITETPD QPIPFLIDHL QSKQGNRGQL QRTLSGSAAL WAESEKSESK GTRRDFRSYD 70 80 90 100 110 120 KPWQLNAKKP KKSKSDLAVS NISPPSPDSK SLPRSVEHPK WNWRTKPQSR DFDELNHILQ 130 140 150 160 170 180 ESKKLGKALE NLSRSIAISD ELDKETVTFN SSLLRPRVIG EWIGREENDA DPLAAEMLQP 190 200 210 220 230 240 PIPRSKNDQW ESEDSGSSPA GSLKMEPKNK GLKQQQQQHK KLLAAMLSQD SFESIHSPTP 250 260 270 280 290 300 SVTEEDIDNE DDAMELLEDL NDLRMEGVTT LVPSGSKFNQ GRPTYPAEPQ AKVTLNICSR 310 320 330 340 350 360 CARLQGDNLE ERTEESLPIL HSPDEKIPDS FDSLPGTEEA LMEEGDEFEK ASKLTGPGEA 370 380 390 400 410 420 SSGVGHSLKN YMEEDESLKQ LQVVHQPWIL PSDTESEGVE AEQEKRSADL LLCVPCSSCP TLVYSGL
	Isoform 3. Checksum: 49A18322096C958D	FASTA	287	32,461
	10 20 30 40 50 60 MASHPQTRIQ AYLEKNKIGP LFEELMTKLI TETPDQPIPF LIDHLQSKQG NRGQLQRTLS 70 80 90 100 110 120 GSAALWAESE KSESKGTRRD FRSYDKPWQL NAKKPKKSKS DLAVSNISPP SPDSKSLPRS 130 140 150 160 170 180 VEHPKWNWRT KPQSRDFDEL NHILQESKKL GKALENLSRS IAISDELDKE TVTFNSSLLR 190 200 210 220 230 240 PRVIGEWIGR EENDADPLAA EMLQPPIPRS KNDQWESEDS GSSPAGSLKM EPKNKGLKQQ 250 260 270 280 QQQHKKLLAA MLSQDSFESI HSPTPSVTEE DIDNEDDAME LLGNFKD
	Isoform 4. Checksum: D5D282CF71B5F730	FASTA	201	22,266
	10 20 30 40 50 60 MENGFTMCQT GRQHPVACGL HLSGGKEDLN DLRMEGVTTL VPSGSKFNQG RPTYPAEPQA 70 80 90 100 110 120 KVTLNICSRC ARLQGDNLEE RTEESLPILH SPDEKIPDSF DSLPGTEEAL MEEGDEFEKA 130 140 150 160 170 180 SKLTGPGEAS SGVGHSLKNY MEEDESLKQL QVVHQPWILP SDTESEGVEA EQEKHLLNQN 190 200 LCGWDSEFCI FHTLASFLIY K
	Isoform 5. Checksum: 2E83D911DC7DAADA	FASTA	129	14,505
	10 20 30 40 50 60 MASHPQTRIQ AYLEKNKIGP LFEELMTKLI TETPDQPIPF LIDHLQSKQG NRGQLQRTLS 70 80 90 100 110 120 GSAALWAESE KSESKGTRRD FRSYDKPWQL NAKKPKKSKS DLAVSNISPP SPDSKSCKEV SYSNAIQSM

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Molecular cloning and expression analysis of a novel gene VEST-1 from human vestibular cDNA library; a candidate gene for hearing loss." Abe S., Koyama K., Takumi Y., Usami S., Inoue Y., Nakamura Y. Submitted (MAR-2001) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2). Tissue: Fetal brain.
[2]	"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: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 3; 4 AND 5). Tissue: Amygdala, Astrocyte and Brain.
[3]	"The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed: 17974005] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3). Tissue: Brain.
[4]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]	"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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT THR-426. Tissue: Brain.
[6]	"Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach." Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S. Anal. Chem. 81:4493-4501(2009) [PubMed: 19413330] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-111, MASS SPECTROMETRY.
[7]	"The consensus coding sequences of human breast and colorectal cancers." Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E. Science 314:268-274(2006) [PubMed: 16959974] [Abstract] Cited for: VARIANT [LARGE SCALE ANALYSIS] ASN-75.

Cross-references

Sequence databases
EMBLGenBankDDBJ	AB056652 mRNA. Translation: BAB64433.1. AK094191 mRNA. Translation: BAC04304.1. AK094650 mRNA. Translation: BAC04395.1. AK291436 mRNA. Translation: BAF84125.1. AL834454 mRNA. Translation: CAD39114.2. CH471068 Genomic DNA. Translation: EAW86949.1. BC041961 mRNA. Translation: AAH41961.1. Frameshift.
IPI	IPI00044650. IPI00298609. IPI00383930. IPI00395369. IPI00890751.
RefSeq	NP_443190.1.
UniGene	Hs.491941
3D structure databases
ModBase	Search...
Genome annotation databases
Ensembl	ENST00000337103; ENSP00000337174; ENSG00000165084; Homo sapiens. [Genome view]
GeneID	116328.
KEGG	hsa:116328.
UCSC	uc003xyb.1. human. uc010lyx.1. human. uc010lyy.1. human. uc010lyz.1. human.
Organism-specific databases
CTD	116328.
GeneCards	GC08P069406.
HGNC	HGNC:30905. C8orf34.
PharmGKB	PA142672353.
GenAtlas	Search...
Phylogenomic databases
HOGENOM	HBG715739.
HOVERGEN	Q49A92.
InParanoid	Q49A92.
OMA	FNQGRAT.
Gene expression databases
ArrayExpress	Q49A92.
Bgee	Q49A92.
CleanEx	HS_C8orf34.
Genevestigator	Q49A92.
Family and domain databases
ProtoNet	Search...
Other Resources
NextBio	79864.

Entry information

Entry name

CH034_HUMAN

Accession

Primary (citable) accession number: Q49A92
Secondary accession number(s): A8K5X1 , Q8N1X0, Q8N9M7, Q8ND19, Q96Q28

Entry history

Integrated into UniProtKB/Swiss-Prot:	April 29, 2008
Last sequence update:	April 29, 2008
Last modified:	December 15, 2009
This is version 33 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

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.