CH034_HUMAN
ID CH034_HUMAN Reviewed; 538 AA.
AC Q49A92; A0A0C4DFS7; A8K5X1; G3XAM6; Q8N1X0; Q8N9M7; Q8ND19; Q96Q28;
DT 29-APR-2008, integrated into UniProtKB/Swiss-Prot.
DT 28-MAR-2018, sequence version 3.
DT 03-AUG-2022, entry version 124.
DE RecName: Full=Uncharacterized protein C8orf34;
DE AltName: Full=Protein VEST-1;
GN Name=C8orf34;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
RC TISSUE=Fetal brain;
RA Abe S., Koyama K., Takumi Y., Usami S., Inoue Y., Nakamura Y.;
RT "Molecular cloning and expression analysis of a novel gene VEST-1 from
RT human vestibular cDNA library; a candidate gene for hearing loss.";
RL Submitted (MAR-2001) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 3 AND 4).
RC TISSUE=Amygdala, Astrocyte, and Brain;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
RC TISSUE=Brain;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16421571; DOI=10.1038/nature04406;
RA Nusbaum C., Mikkelsen T.S., Zody M.C., Asakawa S., Taudien S., Garber M.,
RA Kodira C.D., Schueler M.G., Shimizu A., Whittaker C.A., Chang J.L.,
RA Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Allen N.R., Anderson S.,
RA Asakawa T., Blechschmidt K., Bloom T., Borowsky M.L., Butler J., Cook A.,
RA Corum B., DeArellano K., DeCaprio D., Dooley K.T., Dorris L. III,
RA Engels R., Gloeckner G., Hafez N., Hagopian D.S., Hall J.L., Ishikawa S.K.,
RA Jaffe D.B., Kamat A., Kudoh J., Lehmann R., Lokitsang T., Macdonald P.,
RA Major J.E., Matthews C.D., Mauceli E., Menzel U., Mihalev A.H.,
RA Minoshima S., Murayama Y., Naylor J.W., Nicol R., Nguyen C., O'Leary S.B.,
RA O'Neill K., Parker S.C.J., Polley A., Raymond C.K., Reichwald K.,
RA Rodriguez J., Sasaki T., Schilhabel M., Siddiqui R., Smith C.L.,
RA Sneddon T.P., Talamas J.A., Tenzin P., Topham K., Venkataraman V., Wen G.,
RA Yamazaki S., Young S.K., Zeng Q., Zimmer A.R., Rosenthal A., Birren B.W.,
RA Platzer M., Shimizu N., Lander E.S.;
RT "DNA sequence and analysis of human chromosome 8.";
RL Nature 439:331-335(2006).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANT THR-512.
RC TISSUE=Brain;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [7]
RP VARIANT [LARGE SCALE ANALYSIS] ASN-161.
RX PubMed=16959974; DOI=10.1126/science.1133427;
RA Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D.,
RA Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P.,
RA Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V.,
RA Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H.,
RA Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W.,
RA Velculescu V.E.;
RT "The consensus coding sequences of human breast and colorectal cancers.";
RL Science 314:268-274(2006).
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=4;
CC Name=1;
CC IsoId=Q49A92-6; Sequence=Displayed;
CC Name=2;
CC IsoId=Q49A92-2; Sequence=VSP_059474;
CC Name=3;
CC IsoId=Q49A92-3; Sequence=VSP_059475, VSP_059476, VSP_059477;
CC Name=4;
CC IsoId=Q49A92-4; Sequence=VSP_059473, VSP_059478;
CC -!- CAUTION: It is uncertain whether Met-1 or Met-87 is the initiator
CC methionine. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH41961.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC Sequence=AAH41961.1; Type=Frameshift; Evidence={ECO:0000305};
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DR EMBL; AB056652; BAB64433.1; -; mRNA.
DR EMBL; AK094191; BAC04304.1; -; mRNA.
DR EMBL; AK094650; BAC04395.1; -; mRNA.
DR EMBL; AK291436; BAF84125.1; -; mRNA.
DR EMBL; AL834454; CAD39114.2; -; mRNA.
DR EMBL; AC011884; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC067871; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC083967; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC090096; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; KF458778; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; KF458774; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471068; EAW86947.1; -; Genomic_DNA.
DR EMBL; CH471068; EAW86949.1; -; Genomic_DNA.
DR EMBL; BC041961; AAH41961.1; ALT_SEQ; mRNA.
DR CCDS; CCDS6203.2; -. [Q49A92-6]
DR RefSeq; NP_443190.2; NM_052958.2. [Q49A92-6]
DR AlphaFoldDB; Q49A92; -.
DR SMR; Q49A92; -.
DR BioGRID; 125497; 13.
DR IntAct; Q49A92; 2.
DR STRING; 9606.ENSP00000427820; -.
DR iPTMnet; Q49A92; -.
DR PhosphoSitePlus; Q49A92; -.
DR BioMuta; C8orf34; -.
DR DMDM; 187470865; -.
DR EPD; Q49A92; -.
DR MassIVE; Q49A92; -.
DR PaxDb; Q49A92; -.
DR PeptideAtlas; Q49A92; -.
DR PRIDE; Q49A92; -.
DR ProteomicsDB; 33789; -.
DR ProteomicsDB; 62033; -. [Q49A92-2]
DR ProteomicsDB; 62034; -. [Q49A92-3]
DR ProteomicsDB; 62035; -. [Q49A92-4]
DR Antibodypedia; 25036; 69 antibodies from 17 providers.
DR DNASU; 116328; -.
DR Ensembl; ENST00000325233.3; ENSP00000319532.3; ENSG00000165084.16. [Q49A92-4]
DR Ensembl; ENST00000337103.8; ENSP00000337174.4; ENSG00000165084.16. [Q49A92-2]
DR Ensembl; ENST00000348340.6; ENSP00000345255.2; ENSG00000165084.16. [Q49A92-3]
DR Ensembl; ENST00000518698.6; ENSP00000427820.1; ENSG00000165084.16. [Q49A92-6]
DR GeneID; 116328; -.
DR KEGG; hsa:116328; -.
DR MANE-Select; ENST00000518698.6; ENSP00000427820.1; NM_052958.4; NP_443190.2.
DR UCSC; uc003xyb.4; human. [Q49A92-6]
DR CTD; 116328; -.
DR DisGeNET; 116328; -.
DR GeneCards; C8orf34; -.
DR HGNC; HGNC:30905; C8orf34.
DR HPA; ENSG00000165084; Tissue enhanced (brain, fallopian tube, parathyroid gland).
DR neXtProt; NX_Q49A92; -.
DR OpenTargets; ENSG00000165084; -.
DR PharmGKB; PA142672353; -.
DR VEuPathDB; HostDB:ENSG00000165084; -.
DR eggNOG; ENOG502QUHG; Eukaryota.
DR GeneTree; ENSGT00390000005870; -.
DR HOGENOM; CLU_1948122_0_0_1; -.
DR InParanoid; Q49A92; -.
DR OMA; ICLWQDE; -.
DR OrthoDB; 667565at2759; -.
DR PhylomeDB; Q49A92; -.
DR TreeFam; TF332826; -.
DR PathwayCommons; Q49A92; -.
DR SignaLink; Q49A92; -.
DR BioGRID-ORCS; 116328; 15 hits in 1057 CRISPR screens.
DR ChiTaRS; C8orf34; human.
DR GenomeRNAi; 116328; -.
DR Pharos; Q49A92; Tdark.
DR PRO; PR:Q49A92; -.
DR Proteomes; UP000005640; Chromosome 8.
DR RNAct; Q49A92; protein.
DR Bgee; ENSG00000165084; Expressed in cortical plate and 124 other tissues.
DR ExpressionAtlas; Q49A92; baseline and differential.
DR Genevisible; Q49A92; HS.
DR InterPro; IPR040687; DUF5586.
DR PANTHER; PTHR32000; PTHR32000; 2.
DR Pfam; PF17824; DUF5586; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Reference proteome.
FT CHAIN 1..538
FT /note="Uncharacterized protein C8orf34"
FT /id="PRO_0000330039"
FT REGION 20..71
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 151..211
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 288..331
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 458..482
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 157..186
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 187..201
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1..368
FT /note="MSSPLASELSELAALRPGFRLSAPHARVAPRAATHARGRGRASHAGQPRLRS
FT SCPGPSPGKRRVVPSGGAQPRVLPALSSRSHLFPMASHPQTRIQAYLEKNKIGPLFEEL
FT MTKLITETPDQPIPFLIDHLQSKQGNRGQLQRTLSGSAALWAESEKSESKGTRRDFRSY
FT DKPWQLNAKKPKKSKSDLAVSNISPPSPDSKSLPRSVEHPKWNWRTKPQSRDFDELNHI
FT LQESKKLGKALENLSRSIAISDELDKETVTFNSSLLRPRVIGEWIGREENDADPLAAEM
FT LQPPIPRSKNDQWESEDSGSSPAGSLKMEPKNKGLKQQQQQHKKLLAAMLSQDSFESIH
FT SPTPSVTEEDIDNEDDAMELL -> MENGFTMCQTGRQHPVACGLHLSGGK (in
FT isoform 4)"
FT /id="VSP_059473"
FT VAR_SEQ 1..111
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_059474"
FT VAR_SEQ 1..86
FT /note="Missing (in isoform 3)"
FT /id="VSP_059475"
FT VAR_SEQ 369..373
FT /note="EDLND -> GNFKN (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:17974005"
FT /id="VSP_059476"
FT VAR_SEQ 374..538
FT /note="Missing (in isoform 3)"
FT /id="VSP_059477"
FT VAR_SEQ 517..538
FT /note="RSADLLLCVPCSSCPTLVYSGL -> HLLNQNLCGWDSEFCIFHTLASFLIY
FT K (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_059478"
FT VARIANT 161
FT /note="K -> N (in a colorectal cancer sample; somatic
FT mutation)"
FT /evidence="ECO:0000269|PubMed:16959974"
FT /id="VAR_042690"
FT VARIANT 512
FT /note="A -> T (in dbSNP:rs16935065)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_042691"
SQ SEQUENCE 538 AA; 59434 MW; 813DC01121888F68 CRC64;
MSSPLASELS ELAALRPGFR LSAPHARVAP RAATHARGRG RASHAGQPRL RSSCPGPSPG
KRRVVPSGGA QPRVLPALSS RSHLFPMASH PQTRIQAYLE KNKIGPLFEE LMTKLITETP
DQPIPFLIDH LQSKQGNRGQ LQRTLSGSAA LWAESEKSES KGTRRDFRSY DKPWQLNAKK
PKKSKSDLAV SNISPPSPDS KSLPRSVEHP KWNWRTKPQS RDFDELNHIL QESKKLGKAL
ENLSRSIAIS DELDKETVTF NSSLLRPRVI GEWIGREEND ADPLAAEMLQ PPIPRSKNDQ
WESEDSGSSP AGSLKMEPKN KGLKQQQQQH KKLLAAMLSQ DSFESIHSPT PSVTEEDIDN
EDDAMELLED LNDLRMEGVT TLVPSGSKFN QGRPTYPAEP QAKVTLNICS RCARLQGDNL
EERTEESLPI LHSPDEKIPD SFDSLPGTEE ALMEEGDEFE KASKLTGPGE ASSGVGHSLK
NYMEEDESLK QLQVVHQPWI LPSDTESEGV EAEQEKRSAD LLLCVPCSSC PTLVYSGL
