TMC5A_HUMAN
ID TMC5A_HUMAN Reviewed; 288 AA.
AC Q8N6Q1; Q8NA63;
DT 02-OCT-2007, integrated into UniProtKB/Swiss-Prot.
DT 01-MAR-2004, sequence version 2.
DT 03-AUG-2022, entry version 125.
DE RecName: Full=Transmembrane and coiled-coil domain-containing protein 5A;
GN Name=TMCO5A; Synonyms=TMCO5;
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 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 [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
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).
CC -!- INTERACTION:
CC Q8N6Q1; O15155: BET1; NbExp=3; IntAct=EBI-12821895, EBI-749204;
CC Q8N6Q1; Q8TAB5: C1orf216; NbExp=3; IntAct=EBI-12821895, EBI-747505;
CC Q8N6Q1; O14653: GOSR2; NbExp=3; IntAct=EBI-12821895, EBI-4401517;
CC Q8N6Q1; Q9H2L4: TMEM60; NbExp=3; IntAct=EBI-12821895, EBI-2852148;
CC Q8N6Q1; Q8WUV1: TSPAN18; NbExp=3; IntAct=EBI-12821895, EBI-17670824;
CC Q8N6Q1; O95183: VAMP5; NbExp=3; IntAct=EBI-12821895, EBI-10191195;
CC Q8N6Q1; A0A087WZY1; NbExp=3; IntAct=EBI-12821895, EBI-13387614;
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane
CC protein {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q8N6Q1-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8N6Q1-2; Sequence=VSP_028246, VSP_028247;
CC -!- SIMILARITY: Belongs to the TMCO5 family. {ECO:0000305}.
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DR EMBL; AK093126; BAC04065.1; -; mRNA.
DR EMBL; BC029221; AAH29221.2; -; mRNA.
DR CCDS; CCDS10046.1; -. [Q8N6Q1-1]
DR CCDS; CCDS81862.1; -. [Q8N6Q1-2]
DR RefSeq; NP_001317184.1; NM_001330255.1. [Q8N6Q1-2]
DR RefSeq; NP_689666.2; NM_152453.3. [Q8N6Q1-1]
DR RefSeq; XP_005254225.1; XM_005254168.3.
DR AlphaFoldDB; Q8N6Q1; -.
DR SMR; Q8N6Q1; -.
DR BioGRID; 126954; 9.
DR IntAct; Q8N6Q1; 8.
DR STRING; 9606.ENSP00000327234; -.
DR iPTMnet; Q8N6Q1; -.
DR PhosphoSitePlus; Q8N6Q1; -.
DR BioMuta; TMCO5A; -.
DR DMDM; 74759950; -.
DR MassIVE; Q8N6Q1; -.
DR PaxDb; Q8N6Q1; -.
DR PeptideAtlas; Q8N6Q1; -.
DR PRIDE; Q8N6Q1; -.
DR ProteomicsDB; 72210; -. [Q8N6Q1-1]
DR ProteomicsDB; 72211; -. [Q8N6Q1-2]
DR Antibodypedia; 67483; 30 antibodies from 9 providers.
DR DNASU; 145942; -.
DR Ensembl; ENST00000319669.5; ENSP00000327234.4; ENSG00000166069.14. [Q8N6Q1-1]
DR Ensembl; ENST00000559502.5; ENSP00000454112.1; ENSG00000166069.14. [Q8N6Q1-2]
DR GeneID; 145942; -.
DR KEGG; hsa:145942; -.
DR MANE-Select; ENST00000319669.5; ENSP00000327234.4; NM_152453.4; NP_689666.2.
DR UCSC; uc001zjv.1; human. [Q8N6Q1-1]
DR CTD; 145942; -.
DR DisGeNET; 145942; -.
DR GeneCards; TMCO5A; -.
DR HGNC; HGNC:28558; TMCO5A.
DR HPA; ENSG00000166069; Tissue enriched (testis).
DR neXtProt; NX_Q8N6Q1; -.
DR OpenTargets; ENSG00000166069; -.
DR PharmGKB; PA162405808; -.
DR VEuPathDB; HostDB:ENSG00000166069; -.
DR eggNOG; ENOG502TDSB; Eukaryota.
DR GeneTree; ENSGT00940000153380; -.
DR HOGENOM; CLU_061400_0_0_1; -.
DR InParanoid; Q8N6Q1; -.
DR OMA; RGILWKL; -.
DR PhylomeDB; Q8N6Q1; -.
DR TreeFam; TF337140; -.
DR PathwayCommons; Q8N6Q1; -.
DR SignaLink; Q8N6Q1; -.
DR BioGRID-ORCS; 145942; 13 hits in 1060 CRISPR screens.
DR ChiTaRS; TMCO5A; human.
DR GenomeRNAi; 145942; -.
DR Pharos; Q8N6Q1; Tdark.
DR PRO; PR:Q8N6Q1; -.
DR Proteomes; UP000005640; Chromosome 15.
DR RNAct; Q8N6Q1; protein.
DR Bgee; ENSG00000166069; Expressed in left testis and 64 other tissues.
DR ExpressionAtlas; Q8N6Q1; baseline and differential.
DR Genevisible; Q8N6Q1; HS.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR InterPro; IPR026617; SMCO2/5.
DR PANTHER; PTHR22422; PTHR22422; 1.
DR Pfam; PF14992; TMCO5; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Coiled coil; Membrane; Reference proteome;
KW Transmembrane; Transmembrane helix.
FT CHAIN 1..288
FT /note="Transmembrane and coiled-coil domain-containing
FT protein 5A"
FT /id="PRO_0000305153"
FT TRANSMEM 224..244
FT /note="Helical"
FT /evidence="ECO:0000255"
FT COILED 10..192
FT /evidence="ECO:0000255"
FT VAR_SEQ 224..228
FT /note="IFCCL -> WASSF (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_028246"
FT VAR_SEQ 229..288
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_028247"
FT CONFLICT 57
FT /note="G -> D (in Ref. 1; BAC04065)"
FT /evidence="ECO:0000305"
FT CONFLICT 201
FT /note="K -> E (in Ref. 1; BAC04065)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 288 AA; 34174 MW; 348D002915DF1132 CRC64;
MEISRLAQSK RNIISLNMDL ERDTQRIDEA NQKLLLKIQE REDKIQRLES EIIQTRGLVE
DEEWEKENRT TMERERALQE LEEETARLER KNKTLVHSIT ELQQKLTRKS QKITNCEQSS
PDGALEETKV KLQQLEASYA CQEKELLKVM KEYAFVTQLC EDQALYIKKY QETLKKIEEE
LEALFLEREV SKLVSMNPVE KEHTSQNNEG TPTQKTARLF SKKIFCCLFF ITLFFIRLLS
YMFFHVRFIN PDLLVNVLPK VLGRSTLWKL RCFFFPSLTL ETEDMLPH
