CL029_HUMAN
ID CL029_HUMAN Reviewed; 325 AA.
AC Q8N999; Q569K5; Q6AWA8; Q6PEK5; Q8IYQ5; Q9NT75;
DT 02-OCT-2007, integrated into UniProtKB/Swiss-Prot.
DT 02-OCT-2007, sequence version 2.
DT 03-AUG-2022, entry version 121.
DE RecName: Full=Uncharacterized protein C12orf29;
GN Name=C12orf29;
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 [LARGE SCALE MRNA] (ISOFORM 1).
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 [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1; 2 AND 3), AND VARIANT
RP LEU-238.
RC TISSUE=Heart, Liver, Testis, and Uterus;
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 [3]
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 [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), AND VARIANTS
RP LEU-23 AND LEU-238.
RC TISSUE=Brain, and Testis;
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 [5]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21269460; DOI=10.1186/1752-0509-5-17;
RA Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T.,
RA Bennett K.L., Superti-Furga G., Colinge J.;
RT "Initial characterization of the human central proteome.";
RL BMC Syst. Biol. 5:17-17(2011).
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q8N999-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8N999-2; Sequence=VSP_028317, VSP_028318;
CC Name=3;
CC IsoId=Q8N999-3; Sequence=VSP_028316, VSP_028319;
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH35136.2; Type=Erroneous translation; Note=Wrong choice of frame.; Evidence={ECO:0000305};
CC Sequence=AAH58014.1; Type=Erroneous translation; Note=Wrong choice of frame.; Evidence={ECO:0000305};
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DR EMBL; AK095477; BAC04555.1; -; mRNA.
DR EMBL; AL137488; CAB70767.2; -; mRNA.
DR EMBL; BX537868; CAD97870.1; -; mRNA.
DR EMBL; BX640968; CAE45983.1; -; mRNA.
DR EMBL; BX648026; CAH10541.1; -; mRNA.
DR EMBL; CH471054; EAW97411.1; -; Genomic_DNA.
DR EMBL; BC035136; AAH35136.2; ALT_SEQ; mRNA.
DR EMBL; BC058014; AAH58014.1; ALT_SEQ; mRNA.
DR EMBL; BC092422; AAH92422.1; -; mRNA.
DR CCDS; CCDS31866.1; -. [Q8N999-1]
DR PIR; T46472; T46472.
DR RefSeq; NP_001009894.2; NM_001009894.2. [Q8N999-1]
DR AlphaFoldDB; Q8N999; -.
DR BioGRID; 124812; 5.
DR IntAct; Q8N999; 2.
DR STRING; 9606.ENSP00000349358; -.
DR GlyGen; Q8N999; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q8N999; -.
DR PhosphoSitePlus; Q8N999; -.
DR BioMuta; C12orf29; -.
DR DMDM; 158706467; -.
DR EPD; Q8N999; -.
DR jPOST; Q8N999; -.
DR MassIVE; Q8N999; -.
DR MaxQB; Q8N999; -.
DR PaxDb; Q8N999; -.
DR PeptideAtlas; Q8N999; -.
DR PRIDE; Q8N999; -.
DR ProteomicsDB; 72510; -. [Q8N999-1]
DR ProteomicsDB; 72511; -. [Q8N999-2]
DR ProteomicsDB; 72512; -. [Q8N999-3]
DR Antibodypedia; 52241; 118 antibodies from 23 providers.
DR DNASU; 91298; -.
DR Ensembl; ENST00000356891.4; ENSP00000349358.3; ENSG00000133641.18. [Q8N999-1]
DR Ensembl; ENST00000453037.7; ENSP00000402018.2; ENSG00000133641.18. [Q8N999-2]
DR Ensembl; ENST00000550333.5; ENSP00000448194.1; ENSG00000133641.18. [Q8N999-2]
DR Ensembl; ENST00000552121.5; ENSP00000447327.1; ENSG00000133641.18. [Q8N999-2]
DR GeneID; 91298; -.
DR KEGG; hsa:91298; -.
DR MANE-Select; ENST00000356891.4; ENSP00000349358.3; NM_001009894.3; NP_001009894.2.
DR UCSC; uc001tao.4; human. [Q8N999-1]
DR CTD; 91298; -.
DR GeneCards; C12orf29; -.
DR HGNC; HGNC:25322; C12orf29.
DR HPA; ENSG00000133641; Low tissue specificity.
DR MalaCards; C12orf29; -.
DR neXtProt; NX_Q8N999; -.
DR OpenTargets; ENSG00000133641; -.
DR PharmGKB; PA143485359; -.
DR VEuPathDB; HostDB:ENSG00000133641; -.
DR eggNOG; ENOG502QWBV; Eukaryota.
DR GeneTree; ENSGT00500000044938; -.
DR HOGENOM; CLU_074918_0_0_1; -.
DR InParanoid; Q8N999; -.
DR OMA; GTCCYVS; -.
DR OrthoDB; 804376at2759; -.
DR PhylomeDB; Q8N999; -.
DR TreeFam; TF328501; -.
DR PathwayCommons; Q8N999; -.
DR SignaLink; Q8N999; -.
DR BioGRID-ORCS; 91298; 9 hits in 1014 CRISPR screens.
DR ChiTaRS; C12orf29; human.
DR GenomeRNAi; 91298; -.
DR Pharos; Q8N999; Tdark.
DR PRO; PR:Q8N999; -.
DR Proteomes; UP000005640; Chromosome 12.
DR RNAct; Q8N999; protein.
DR Bgee; ENSG00000133641; Expressed in endothelial cell and 211 other tissues.
DR ExpressionAtlas; Q8N999; baseline and differential.
DR Genevisible; Q8N999; HS.
DR GO; GO:0002244; P:hematopoietic progenitor cell differentiation; IEA:Ensembl.
DR InterPro; IPR041211; DUF5565.
DR PANTHER; PTHR31219; PTHR31219; 1.
DR Pfam; PF17720; DUF5565; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Reference proteome.
FT CHAIN 1..325
FT /note="Uncharacterized protein C12orf29"
FT /id="PRO_0000305272"
FT VAR_SEQ 1..29
FT /note="MKRLGSVQRKMPCVFVTEVKEEPSSKREH -> MSLPF (in isoform
FT 3)"
FT /evidence="ECO:0000303|PubMed:17974005"
FT /id="VSP_028316"
FT VAR_SEQ 31..38
FT /note="PFKVLATE -> ISHTFGLD (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334,
FT ECO:0000303|PubMed:17974005"
FT /id="VSP_028317"
FT VAR_SEQ 39..325
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334,
FT ECO:0000303|PubMed:17974005"
FT /id="VSP_028318"
FT VAR_SEQ 140
FT /note="P -> PG (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:17974005"
FT /id="VSP_028319"
FT VARIANT 23
FT /note="P -> L (in dbSNP:rs11541954)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_035197"
FT VARIANT 238
FT /note="V -> L (in dbSNP:rs9262)"
FT /evidence="ECO:0000269|PubMed:15489334,
FT ECO:0000269|PubMed:17974005"
FT /id="VAR_035198"
FT CONFLICT 87
FT /note="E -> K (in Ref. 4; AAH92422)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 325 AA; 37490 MW; 348F2FB665137DAC CRC64;
MKRLGSVQRK MPCVFVTEVK EEPSSKREHQ PFKVLATETV SHKALDADIY SAIPTEKVDG
TCCYVTTYKD QPYLWARLDR KPNKQAEKRF KNFLHSKENP KEFFWNVEED FKPAPECWIP
AKETEQINGN PVPDENGHIP GWVPVEKNNK QYCWHSSVVN YEFEIALVLK HHPDDSGLLE
ISAVPLSDLL EQTLELIGTN INGNPYGLGS KKHPLHLLIP HGAFQIRNLP SLKHNDLVSW
FEDCKEGKIE GIVWHCSDGC LIKVHRHHLG LCWPIPDTYM NSRPVIINMN LNKCDSAFDI
KCLFNHFLKI DNQKFVRLKD IIFDV
