F167A_HUMAN
ID F167A_HUMAN Reviewed; 214 AA.
AC Q96KS9; A8K3T9; Q3SXY1; Q3SXY3; Q8N3M3; Q9NSR0;
DT 27-JAN-2003, integrated into UniProtKB/Swiss-Prot.
DT 01-DEC-2001, sequence version 1.
DT 03-AUG-2022, entry version 139.
DE RecName: Full=Protein FAM167A;
GN Name=FAM167A; Synonyms=C8orf13;
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], AND TISSUE SPECIFICITY.
RX PubMed=11896452; DOI=10.1038/sj.ejhg.5200750;
RA Appel S., Filter M., Reis A., Hennies H.C., Bergheim A., Ogilvie E.,
RA Arndt S., Simmons A., Lovett M., Hide W., Ramsay M., Reichwald K.,
RA Zimmermann W., Rosenthal A.;
RT "Physical and transcriptional map of the critical region for keratolytic
RT winter erythema (KWE) on chromosome 8p22-p23 between D8S550 and D8S1759.";
RL Eur. J. Hum. Genet. 10:17-25(2002).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT GLN-56.
RC TISSUE=Lung;
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], AND VARIANTS GLN-56 AND SER-107.
RC TISSUE=Amygdala;
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 MRNA], AND VARIANTS GLN-56 AND SER-107.
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 Q96KS9; Q8NI60: COQ8A; NbExp=3; IntAct=EBI-10290462, EBI-745535;
CC Q96KS9; O60941-5: DTNB; NbExp=3; IntAct=EBI-10290462, EBI-11984733;
CC Q96KS9; Q53SE7: FLJ13057; NbExp=3; IntAct=EBI-10290462, EBI-10172181;
CC Q96KS9; Q96IK5: GMCL1; NbExp=6; IntAct=EBI-10290462, EBI-2548508;
CC Q96KS9; O00291: HIP1; NbExp=3; IntAct=EBI-10290462, EBI-473886;
CC Q96KS9; P42858: HTT; NbExp=6; IntAct=EBI-10290462, EBI-466029;
CC Q96KS9; P13473-2: LAMP2; NbExp=3; IntAct=EBI-10290462, EBI-21591415;
CC Q96KS9; Q08209-2: PPP3CA; NbExp=3; IntAct=EBI-10290462, EBI-11959013;
CC Q96KS9; P05129: PRKCG; NbExp=3; IntAct=EBI-10290462, EBI-949799;
CC Q96KS9; O75400-2: PRPF40A; NbExp=3; IntAct=EBI-10290462, EBI-5280197;
CC Q96KS9; P41219: PRPH; NbExp=3; IntAct=EBI-10290462, EBI-752074;
CC Q96KS9; Q8N3L3: TXLNB; NbExp=3; IntAct=EBI-10290462, EBI-6116822;
CC -!- TISSUE SPECIFICITY: Expressed in skin, including primary keratinocytes,
CC spleen, kidney, leukocytes, testis, lung, small intestine and prostate.
CC {ECO:0000269|PubMed:11896452}.
CC -!- SIMILARITY: Belongs to the FAM167 (SEC) family. {ECO:0000305}.
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DR EMBL; AJ301564; CAC82740.1; -; mRNA.
DR EMBL; AK290704; BAF83393.1; -; mRNA.
DR EMBL; AL834122; CAD38843.1; -; mRNA.
DR EMBL; AL157475; CAB75670.1; -; mRNA.
DR EMBL; BC104041; AAI04042.1; -; mRNA.
DR EMBL; BC104042; AAI04043.1; -; mRNA.
DR EMBL; BC104043; AAI04044.1; -; mRNA.
DR CCDS; CCDS5981.1; -.
DR PIR; T46905; T46905.
DR RefSeq; NP_444509.2; NM_053279.2.
DR RefSeq; XP_005272455.1; XM_005272398.4.
DR RefSeq; XP_011542139.1; XM_011543837.1.
DR RefSeq; XP_011542140.1; XM_011543838.2.
DR RefSeq; XP_011542142.1; XM_011543840.2.
DR AlphaFoldDB; Q96KS9; -.
DR SMR; Q96KS9; -.
DR BioGRID; 123710; 108.
DR IntAct; Q96KS9; 58.
DR STRING; 9606.ENSP00000284486; -.
DR iPTMnet; Q96KS9; -.
DR PhosphoSitePlus; Q96KS9; -.
DR BioMuta; FAM167A; -.
DR DMDM; 27923752; -.
DR EPD; Q96KS9; -.
DR MassIVE; Q96KS9; -.
DR PaxDb; Q96KS9; -.
DR PeptideAtlas; Q96KS9; -.
DR PRIDE; Q96KS9; -.
DR ProteomicsDB; 77114; -.
DR Antibodypedia; 8501; 61 antibodies from 14 providers.
DR DNASU; 83648; -.
DR Ensembl; ENST00000284486.9; ENSP00000284486.4; ENSG00000154319.16.
DR Ensembl; ENST00000528897.1; ENSP00000436655.1; ENSG00000154319.16.
DR Ensembl; ENST00000534308.1; ENSP00000432232.1; ENSG00000154319.16.
DR GeneID; 83648; -.
DR KEGG; hsa:83648; -.
DR MANE-Select; ENST00000284486.9; ENSP00000284486.4; NM_053279.3; NP_444509.2.
DR UCSC; uc003wtw.3; human.
DR CTD; 83648; -.
DR DisGeNET; 83648; -.
DR GeneCards; FAM167A; -.
DR HGNC; HGNC:15549; FAM167A.
DR HPA; ENSG00000154319; Tissue enhanced (brain, thyroid gland).
DR MalaCards; FAM167A; -.
DR MIM; 610085; gene.
DR neXtProt; NX_Q96KS9; -.
DR OpenTargets; ENSG00000154319; -.
DR PharmGKB; PA162387057; -.
DR VEuPathDB; HostDB:ENSG00000154319; -.
DR eggNOG; ENOG502RY4P; Eukaryota.
DR GeneTree; ENSGT00940000159097; -.
DR HOGENOM; CLU_111170_0_0_1; -.
DR InParanoid; Q96KS9; -.
DR OMA; REPRQHP; -.
DR OrthoDB; 1249197at2759; -.
DR PhylomeDB; Q96KS9; -.
DR TreeFam; TF330468; -.
DR PathwayCommons; Q96KS9; -.
DR SignaLink; Q96KS9; -.
DR BioGRID-ORCS; 83648; 12 hits in 1071 CRISPR screens.
DR ChiTaRS; FAM167A; human.
DR GenomeRNAi; 83648; -.
DR Pharos; Q96KS9; Tbio.
DR PRO; PR:Q96KS9; -.
DR Proteomes; UP000005640; Chromosome 8.
DR RNAct; Q96KS9; protein.
DR Bgee; ENSG00000154319; Expressed in stromal cell of endometrium and 156 other tissues.
DR ExpressionAtlas; Q96KS9; baseline and differential.
DR Genevisible; Q96KS9; HS.
DR InterPro; IPR024280; FAM167.
DR Pfam; PF11652; FAM167; 1.
PE 1: Evidence at protein level;
KW Coiled coil; Reference proteome.
FT CHAIN 1..214
FT /note="Protein FAM167A"
FT /id="PRO_0000221433"
FT REGION 1..26
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 59..108
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 118..156
FT /evidence="ECO:0000255"
FT VARIANT 56
FT /note="H -> Q (in dbSNP:rs3021513)"
FT /evidence="ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:17974005"
FT /id="VAR_062205"
FT VARIANT 107
FT /note="T -> S (in dbSNP:rs3021512)"
FT /evidence="ECO:0000269|PubMed:15489334,
FT ECO:0000269|PubMed:17974005"
FT /id="VAR_062206"
FT CONFLICT 130
FT /note="M -> L (in Ref. 3; CAD38843)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 214 AA; 24182 MW; 14216A4E58987284 CRC64;
MSVPQIHVEE VGAEEGAGAA APPDDHLRSL KALTEKLRLE TRRPSYLEWQ ARLEEHTWPF
PRPAAEPQAS LEEGERGGQE PLLPLREAGQ HPPSARSASQ GARPLSTGKL EGFQSIDEAI
AWLRKELTEM RLQDQQLARQ LMRLRGDINK LKIEHTCRLH RRMLNDATYE LEERDELADL
FCDSPLASSF SLSTPLKLIG VTKMNINSRR FSLC
