CCD34_HUMAN
ID CCD34_HUMAN Reviewed; 373 AA.
AC Q96HJ3; B2R8G2; Q8IX69; Q9H2A6; Q9Y599;
DT 10-JUN-2008, integrated into UniProtKB/Swiss-Prot.
DT 10-JUN-2008, sequence version 2.
DT 03-AUG-2022, entry version 123.
DE RecName: Full=Coiled-coil domain-containing protein 34;
DE AltName: Full=Renal carcinoma antigen NY-REN-41;
GN Name=CCDC34; Synonyms=RAMA3; ORFNames=L15;
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).
RX PubMed=15334068; DOI=10.1038/sj.onc.1207921;
RA Petroziello J., Yamane A., Westendorf L., Thompson M., McDonagh C.,
RA Cerveny C., Law C.-L., Wahl A., Carter P.;
RT "Suppression subtractive hybridization and expression profiling identifies
RT a unique set of genes overexpressed in non-small-cell lung cancer.";
RL Oncogene 23:7734-7745(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Testis;
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 GENOMIC DNA].
RX PubMed=16554811; DOI=10.1038/nature04632;
RA Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K.,
RA Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F., Bloom T.,
RA Bruford E., Chang J.L., Cuomo C.A., Eichler E., FitzGerald M.G.,
RA Jaffe D.B., LaButti K., Nicol R., Park H.-S., Seaman C., Sougnez C.,
RA Yang X., Zimmer A.R., Zody M.C., Birren B.W., Nusbaum C., Fujiyama A.,
RA Hattori M., Rogers J., Lander E.S., Sakaki Y.;
RT "Human chromosome 11 DNA sequence and analysis including novel gene
RT identification.";
RL Nature 440:497-500(2006).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
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 [5]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 1-202 (ISOFORM 1), AND IDENTIFICATION AS A
RP RENAL CANCER ANTIGEN.
RX PubMed=10508479;
RX DOI=10.1002/(sici)1097-0215(19991112)83:4<456::aid-ijc4>3.0.co;2-5;
RA Scanlan M.J., Gordan J.D., Williamson B., Stockert E., Bander N.H.,
RA Jongeneel C.V., Gure A.O., Jaeger D., Jaeger E., Knuth A., Chen Y.-T.,
RA Old L.J.;
RT "Antigens recognized by autologous antibody in patients with renal-cell
RT carcinoma.";
RL Int. J. Cancer 83:456-464(1999).
RN [6]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 20-373 (ISOFORM 1), AND VARIANT ALA-264.
RA Panvichian R., Ratanavila A., Ratanatharathorn V.;
RL Submitted (MAY-2001) to the EMBL/GenBank/DDBJ databases.
RN [7]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 236-373 (ISOFORM 1), AND CHROMOSOMAL
RP TRANSLOCATION.
RX PubMed=11173847; DOI=10.1159/000056835;
RA Kutsche K., Glauner E., Knauf S., Pomarino A., Schmidt M., Schroeder B.,
RA Nothwang H., Schueler H., Goecke T., Kersten A., Althaus C., Gal A.;
RT "Cloning and characterization of the breakpoint regions of a chromosome
RT 11;18 translocation in a patient with hamartoma of the retinal pigment
RT epithelium.";
RL Cytogenet. Cell Genet. 91:141-147(2000).
RN [8]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-52, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma;
RX PubMed=23186163; DOI=10.1021/pr300630k;
RA Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
RA Mohammed S.;
RT "Toward a comprehensive characterization of a human cancer cell
RT phosphoproteome.";
RL J. Proteome Res. 12:260-271(2013).
CC -!- INTERACTION:
CC Q96HJ3-2; Q8NI60: COQ8A; NbExp=3; IntAct=EBI-17641690, EBI-745535;
CC Q96HJ3-2; Q92993: KAT5; NbExp=3; IntAct=EBI-17641690, EBI-399080;
CC Q96HJ3-2; Q8TAP4-4: LMO3; NbExp=3; IntAct=EBI-17641690, EBI-11742507;
CC Q96HJ3-2; Q15047-2: SETDB1; NbExp=3; IntAct=EBI-17641690, EBI-9090795;
CC Q96HJ3-2; Q8N661: TMEM86B; NbExp=3; IntAct=EBI-17641690, EBI-2548832;
CC Q96HJ3-2; P61981: YWHAG; NbExp=3; IntAct=EBI-17641690, EBI-359832;
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q96HJ3-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q96HJ3-2; Sequence=VSP_034096, VSP_034097;
CC -!- DISEASE: Note=A chromosomal aberration involving CCDC34 is found in a
CC patient with hamartoma of the retinal pigment epithelium and retina.
CC Translocation t(11;18) (p13;p11.2). {ECO:0000269|PubMed:11173847}.
CC -!- MISCELLANEOUS: Antigen recognized by autologous antibody in patients
CC with renal-cell carcinoma.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAD42874.1; Type=Frameshift; Evidence={ECO:0000305};
CC Sequence=AAO13807.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC Sequence=AAO13807.1; Type=Frameshift; Evidence={ECO:0000305};
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DR EMBL; AY598334; AAT06745.1; -; mRNA.
DR EMBL; AK313358; BAG36159.1; -; mRNA.
DR EMBL; AC090597; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC008496; AAH08496.1; -; mRNA.
DR EMBL; AF155108; AAD42874.1; ALT_FRAME; mRNA.
DR EMBL; AF382034; AAO13807.1; ALT_SEQ; mRNA.
DR EMBL; AF301222; AAG39935.1; -; mRNA.
DR CCDS; CCDS31448.1; -. [Q96HJ3-1]
DR CCDS; CCDS7863.1; -. [Q96HJ3-2]
DR RefSeq; NP_110398.1; NM_030771.1. [Q96HJ3-1]
DR RefSeq; NP_542385.1; NM_080654.2. [Q96HJ3-2]
DR AlphaFoldDB; Q96HJ3; -.
DR SMR; Q96HJ3; -.
DR BioGRID; 124792; 7.
DR IntAct; Q96HJ3; 8.
DR STRING; 9606.ENSP00000330240; -.
DR iPTMnet; Q96HJ3; -.
DR PhosphoSitePlus; Q96HJ3; -.
DR BioMuta; CCDC34; -.
DR DMDM; 190358750; -.
DR EPD; Q96HJ3; -.
DR jPOST; Q96HJ3; -.
DR MassIVE; Q96HJ3; -.
DR MaxQB; Q96HJ3; -.
DR PaxDb; Q96HJ3; -.
DR PeptideAtlas; Q96HJ3; -.
DR PRIDE; Q96HJ3; -.
DR ProteomicsDB; 76754; -. [Q96HJ3-1]
DR ProteomicsDB; 76755; -. [Q96HJ3-2]
DR Antibodypedia; 48802; 68 antibodies from 13 providers.
DR DNASU; 91057; -.
DR Ensembl; ENST00000317945.6; ENSP00000321563.6; ENSG00000109881.17. [Q96HJ3-2]
DR Ensembl; ENST00000328697.11; ENSP00000330240.5; ENSG00000109881.17. [Q96HJ3-1]
DR GeneID; 91057; -.
DR KEGG; hsa:91057; -.
DR MANE-Select; ENST00000328697.11; ENSP00000330240.5; NM_030771.2; NP_110398.1.
DR UCSC; uc001mrh.2; human. [Q96HJ3-1]
DR CTD; 91057; -.
DR DisGeNET; 91057; -.
DR GeneCards; CCDC34; -.
DR HGNC; HGNC:25079; CCDC34.
DR HPA; ENSG00000109881; Tissue enhanced (testis).
DR MIM; 612324; gene.
DR neXtProt; NX_Q96HJ3; -.
DR OpenTargets; ENSG00000109881; -.
DR PharmGKB; PA142672189; -.
DR VEuPathDB; HostDB:ENSG00000109881; -.
DR eggNOG; ENOG502RRPQ; Eukaryota.
DR GeneTree; ENSGT00730000111271; -.
DR HOGENOM; CLU_063061_0_0_1; -.
DR InParanoid; Q96HJ3; -.
DR OMA; FTGDCRP; -.
DR OrthoDB; 1618244at2759; -.
DR PhylomeDB; Q96HJ3; -.
DR TreeFam; TF333383; -.
DR PathwayCommons; Q96HJ3; -.
DR SignaLink; Q96HJ3; -.
DR BioGRID-ORCS; 91057; 10 hits in 1078 CRISPR screens.
DR ChiTaRS; CCDC34; human.
DR GenomeRNAi; 91057; -.
DR Pharos; Q96HJ3; Tbio.
DR PRO; PR:Q96HJ3; -.
DR Proteomes; UP000005640; Chromosome 11.
DR RNAct; Q96HJ3; protein.
DR Bgee; ENSG00000109881; Expressed in left testis and 171 other tissues.
DR Genevisible; Q96HJ3; HS.
DR InterPro; IPR045323; CCDC34.
DR InterPro; IPR025259; CCDC34/181.
DR PANTHER; PTHR23247; PTHR23247; 1.
DR Pfam; PF13904; DUF4207; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Chromosomal rearrangement; Coiled coil;
KW Phosphoprotein; Reference proteome.
FT CHAIN 1..373
FT /note="Coiled-coil domain-containing protein 34"
FT /id="PRO_0000339111"
FT REGION 1..112
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 118..137
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 324..352
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 152..286
FT /evidence="ECO:0000255"
FT COMPBIAS 54..72
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 79..100
FT /note="Acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 52
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT VAR_SEQ 203..229
FT /note="KRKEREQKINKEMEEKAAKELEKEYLQ -> VRRGKWIHTLTSLLQNISSYY
FT TSLPRF (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:15334068, ECO:0000303|PubMed:15489334"
FT /id="VSP_034096"
FT VAR_SEQ 230..373
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:15334068, ECO:0000303|PubMed:15489334"
FT /id="VSP_034097"
FT VARIANT 53
FT /note="P -> S (in dbSNP:rs11549824)"
FT /id="VAR_043866"
FT VARIANT 192
FT /note="H -> N (in dbSNP:rs12364852)"
FT /id="VAR_050750"
FT VARIANT 264
FT /note="E -> A (in dbSNP:rs17244028)"
FT /evidence="ECO:0000269|Ref.6"
FT /id="VAR_043867"
FT VARIANT 319
FT /note="I -> V (in dbSNP:rs16925453)"
FT /id="VAR_043868"
FT CONFLICT 3
FT /note="A -> P (in Ref. 5; AAD42874)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 373 AA; 43225 MW; 050F7D3647C94167 CRC64;
MWAAGRWGPT FPSSYAGFSA DCRPRSRPSS DSCSVPMTGA RGQGLEVVRS PSPPLPLSCS
NSTRSLLSPL GHQSFQFDED DGDGEDEEDV DDEEDVDEDA HDSEAKVASL RGMELQGCAS
TQVESENNQE EQKQVRLPES RLTPWEVWFI GKEKEERDRL QLKALEELNQ QLEKRKEMEE
REKRKIIAEE KHKEWVQKKN EQKRKEREQK INKEMEEKAA KELEKEYLQE KAKEKYQEWL
KKKNAEECER KKKEKEKEKQ QQAEIQEKKE IAEKKFQEWL ENAKHKPRPA AKSYGYANGK
LTGFYSGNSY PEPAFYNPIP WKPIHMPPPK EAKDLSGRKS KRPVISQPHK SSSLVIHKAR
SNLCLGTLCR IQR
