F234A_HUMAN
ID F234A_HUMAN Reviewed; 552 AA.
AC Q9H0X4; D3DU45; Q7L416; Q96FR1; Q96MC7; Q96S30;
DT 05-SEP-2006, integrated into UniProtKB/Swiss-Prot.
DT 01-MAR-2001, sequence version 1.
DT 03-AUG-2022, entry version 160.
DE RecName: Full=Protein FAM234A;
DE AltName: Full=Protein ITFG3;
GN Name=FAM234A {ECO:0000312|HGNC:HGNC:14163}; Synonyms=C16orf9, ITFG3;
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).
RC TISSUE=Amygdala;
RX PubMed=11230166; DOI=10.1101/gr.gr1547r;
RA Wiemann S., Weil B., Wellenreuther R., Gassenhuber J., Glassl S.,
RA Ansorge W., Boecher M., Bloecker H., Bauersachs S., Blum H., Lauber J.,
RA Duesterhoeft A., Beyer A., Koehrer K., Strack N., Mewes H.-W.,
RA Ottenwaelder B., Obermaier B., Tampe J., Heubner D., Wambutt R., Korn B.,
RA Klein M., Poustka A.;
RT "Towards a catalog of human genes and proteins: sequencing and analysis of
RT 500 novel complete protein coding human cDNAs.";
RL Genome Res. 11:422-435(2001).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Stomach;
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=11157797; DOI=10.1093/hmg/10.4.339;
RA Daniels R.J., Peden J.F., Lloyd C., Horsley S.W., Clark K., Tufarelli C.,
RA Kearney L., Buckle V.J., Doggett N.A., Flint J., Higgs D.R.;
RT "Sequence, structure and pathology of the fully annotated terminal 2 Mb of
RT the short arm of human chromosome 16.";
RL Hum. Mol. Genet. 10:339-352(2001).
RN [4]
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 (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Colon, Glioblastoma, and Ovary;
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 [6]
RP GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-389.
RC TISSUE=Liver;
RX PubMed=19159218; DOI=10.1021/pr8008012;
RA Chen R., Jiang X., Sun D., Han G., Wang F., Ye M., Wang L., Zou H.;
RT "Glycoproteomics analysis of human liver tissue by combination of multiple
RT enzyme digestion and hydrazide chemistry.";
RL J. Proteome Res. 8:651-661(2009).
RN [7]
RP GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-314; ASN-389 AND ASN-473.
RC TISSUE=Leukemic T-cell;
RX PubMed=19349973; DOI=10.1038/nbt.1532;
RA Wollscheid B., Bausch-Fluck D., Henderson C., O'Brien R., Bibel M.,
RA Schiess R., Aebersold R., Watts J.D.;
RT "Mass-spectrometric identification and relative quantification of N-linked
RT cell surface glycoproteins.";
RL Nat. Biotechnol. 27:378-386(2009).
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type II
CC membrane protein {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q9H0X4-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9H0X4-2; Sequence=VSP_020121, VSP_020122;
CC -!- SIMILARITY: Belongs to the FAM234 family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAK61220.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
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DR EMBL; AL136542; CAB66477.1; -; mRNA.
DR EMBL; AK057165; BAB71374.1; -; mRNA.
DR EMBL; AE006462; AAK61220.1; ALT_SEQ; Genomic_DNA.
DR EMBL; CH471112; EAW85846.1; -; Genomic_DNA.
DR EMBL; CH471112; EAW85847.1; -; Genomic_DNA.
DR EMBL; BC010521; AAH10521.1; -; mRNA.
DR EMBL; BC013047; AAH13047.1; -; mRNA.
DR EMBL; BC032112; AAH32112.1; -; mRNA.
DR CCDS; CCDS10402.1; -. [Q9H0X4-1]
DR RefSeq; NP_001271426.1; NM_001284497.1. [Q9H0X4-1]
DR RefSeq; NP_114428.1; NM_032039.3. [Q9H0X4-1]
DR RefSeq; XP_005255679.1; XM_005255622.1. [Q9H0X4-1]
DR RefSeq; XP_011520993.1; XM_011522691.1. [Q9H0X4-1]
DR RefSeq; XP_011520994.1; XM_011522692.1. [Q9H0X4-1]
DR RefSeq; XP_016879249.1; XM_017023760.1. [Q9H0X4-1]
DR RefSeq; XP_016879250.1; XM_017023761.1. [Q9H0X4-1]
DR RefSeq; XP_016879251.1; XM_017023762.1. [Q9H0X4-1]
DR AlphaFoldDB; Q9H0X4; -.
DR BioGRID; 123837; 354.
DR IntAct; Q9H0X4; 15.
DR MINT; Q9H0X4; -.
DR STRING; 9606.ENSP00000382814; -.
DR GlyConnect; 1662; 1 N-Linked glycan (1 site).
DR GlyGen; Q9H0X4; 7 sites, 1 N-linked glycan (1 site), 1 O-linked glycan (2 sites).
DR iPTMnet; Q9H0X4; -.
DR PhosphoSitePlus; Q9H0X4; -.
DR SwissPalm; Q9H0X4; -.
DR BioMuta; FAM234A; -.
DR DMDM; 74733531; -.
DR EPD; Q9H0X4; -.
DR jPOST; Q9H0X4; -.
DR MassIVE; Q9H0X4; -.
DR MaxQB; Q9H0X4; -.
DR PaxDb; Q9H0X4; -.
DR PeptideAtlas; Q9H0X4; -.
DR PRIDE; Q9H0X4; -.
DR ProteomicsDB; 80339; -. [Q9H0X4-1]
DR ProteomicsDB; 80340; -. [Q9H0X4-2]
DR Antibodypedia; 2603; 149 antibodies from 21 providers.
DR DNASU; 83986; -.
DR Ensembl; ENST00000301678.7; ENSP00000301678.3; ENSG00000167930.17. [Q9H0X4-1]
DR Ensembl; ENST00000301679.7; ENSP00000301679.2; ENSG00000167930.17. [Q9H0X4-2]
DR Ensembl; ENST00000399932.8; ENSP00000382814.3; ENSG00000167930.17. [Q9H0X4-1]
DR Ensembl; ENST00000654053.1; ENSP00000499447.1; ENSG00000167930.17. [Q9H0X4-2]
DR Ensembl; ENST00000659283.1; ENSP00000499694.1; ENSG00000167930.17. [Q9H0X4-2]
DR Ensembl; ENST00000666018.1; ENSP00000499687.1; ENSG00000167930.17. [Q9H0X4-2]
DR GeneID; 83986; -.
DR KEGG; hsa:83986; -.
DR MANE-Select; ENST00000399932.8; ENSP00000382814.3; NM_032039.4; NP_114428.1.
DR UCSC; uc002cgf.4; human. [Q9H0X4-1]
DR CTD; 83986; -.
DR DisGeNET; 83986; -.
DR GeneCards; FAM234A; -.
DR HGNC; HGNC:14163; FAM234A.
DR HPA; ENSG00000167930; Low tissue specificity.
DR neXtProt; NX_Q9H0X4; -.
DR OpenTargets; ENSG00000167930; -.
DR PharmGKB; PA25564; -.
DR VEuPathDB; HostDB:ENSG00000167930; -.
DR eggNOG; ENOG502R0CE; Eukaryota.
DR GeneTree; ENSGT00530000063694; -.
DR HOGENOM; CLU_036490_0_0_1; -.
DR InParanoid; Q9H0X4; -.
DR OMA; FMFWGLM; -.
DR OrthoDB; 294858at2759; -.
DR PhylomeDB; Q9H0X4; -.
DR TreeFam; TF327203; -.
DR PathwayCommons; Q9H0X4; -.
DR SignaLink; Q9H0X4; -.
DR BioGRID-ORCS; 83986; 9 hits in 1065 CRISPR screens.
DR ChiTaRS; FAM234A; human.
DR GeneWiki; ITFG3; -.
DR GenomeRNAi; 83986; -.
DR Pharos; Q9H0X4; Tbio.
DR PRO; PR:Q9H0X4; -.
DR Proteomes; UP000005640; Chromosome 16.
DR RNAct; Q9H0X4; protein.
DR Bgee; ENSG00000167930; Expressed in apex of heart and 168 other tissues.
DR ExpressionAtlas; Q9H0X4; baseline and differential.
DR Genevisible; Q9H0X4; HS.
DR GO; GO:0009986; C:cell surface; IDA:UniProtKB.
DR GO; GO:0070062; C:extracellular exosome; HDA:UniProtKB.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR InterPro; IPR045232; FAM234.
DR InterPro; IPR011047; Quinoprotein_ADH-like_supfam.
DR PANTHER; PTHR21419; PTHR21419; 1.
DR SUPFAM; SSF50998; SSF50998; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Glycoprotein; Membrane; Phosphoprotein;
KW Reference proteome; Signal-anchor; Transmembrane; Transmembrane helix.
FT CHAIN 1..552
FT /note="Protein FAM234A"
FT /id="PRO_0000247993"
FT TOPO_DOM 1..49
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 50..70
FT /note="Helical; Signal-anchor for type II membrane protein"
FT /evidence="ECO:0000255"
FT TOPO_DOM 71..552
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT REGION 1..40
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1..26
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 21
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q5M7W6"
FT CARBOHYD 116
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 314
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000269|PubMed:19349973"
FT CARBOHYD 389
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000269|PubMed:19159218,
FT ECO:0000269|PubMed:19349973"
FT CARBOHYD 473
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000269|PubMed:19349973"
FT VAR_SEQ 516..540
FT /note="VRDLVPSSRVVRLGEGGPDSDQAIR -> AHTGRQRRGSWTGQSSRRDLHVR
FT VL (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_020121"
FT VAR_SEQ 541..552
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_020122"
FT CONFLICT 20
FT /note="K -> E (in Ref. 2; BAB71374)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 552 AA; 59660 MW; AC81CB184EC3B043 CRC64;
MLDHKDLEAE IHPLKNEERK SQENLGNPSK NEDNVKSAPP QSRLSRCRAA AFFLSLFLCL
FVVFVVSFVI PCPDRPASQR MWRIDYSAAV IYDFLAVDDI NGDRIQDVLF LYKNTNSSNN
FSRSCVDEGF SSPCTFAAAV SGANGSTLWE RPVAQDVALV ECAVPQPRGS EAPSACILVG
RPSSFIAVNL FTGETLWNHS SSFSGNASIL SPLLQVPDVD GDGAPDLLVL TQEREEVSGH
LYSGSTGHQI GLRGSLGVDG ESGFLLHVTR TGAHYILFPC ASSLCGCSVK GLYEKVTGSG
GPFKSDPHWE SMLNATTRRM LSHSSGAVRY LMHVPGNAGA DVLLVGSEAF VLLDGQELTP
RWTPKAAHVL RKPIFGRYKP DTLAVAVENG TGTDRQILFL DLGTGAVLCS LALPSLPGGP
LSASLPTADH RSAFFFWGLH ELGSTSETET GEARHSLYMF HPTLPRVLLE LANVSTHIVA
FDAVLFEPSR HAAYILLTGP ADSEAPGLVS VIKHKVRDLV PSSRVVRLGE GGPDSDQAIR
DRFSRLRYQS EA
