FAM3D_HUMAN
ID FAM3D_HUMAN Reviewed; 224 AA.
AC Q96BQ1; Q547G2;
DT 19-SEP-2002, integrated into UniProtKB/Swiss-Prot.
DT 01-DEC-2001, sequence version 1.
DT 03-AUG-2022, entry version 147.
DE RecName: Full=Protein FAM3D;
DE Flags: Precursor;
GN Name=FAM3D; ORFNames=UNQ567/PRO1130;
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=12160727; DOI=10.1006/geno.2002.6816;
RA Zhu Y., Xu G., Patel A., McLaughlin M.M., Silverman C., Knecht K.A.,
RA Sweitzer S., Li X., McDonnell P., Mirabile R., Zimmerman D., Boyce R.,
RA Tierney L.A., Hu E., Livi G.P., Wolf B.A., Abdel-Meguid S.S., Rose G.D.,
RA Aurora R., Hensley P., Briggs M., Young P.R.;
RT "Cloning, expression, and initial characterization of a novel cytokine-like
RT gene family.";
RL Genomics 80:144-150(2002).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RX PubMed=12975309; DOI=10.1101/gr.1293003;
RA Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J.,
RA Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P.,
RA Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E., Heldens S., Huang A.,
RA Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D.,
RA Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L.,
RA Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C.,
RA Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J.,
RA Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M.;
RT "The secreted protein discovery initiative (SPDI), a large-scale effort to
RT identify novel human secreted and transmembrane proteins: a bioinformatics
RT assessment.";
RL Genome Res. 13:2265-2270(2003).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Colon;
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 [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 (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Colon;
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-107.
RC TISSUE=Saliva;
RX PubMed=16740002; DOI=10.1021/pr050492k;
RA Ramachandran P., Boontheung P., Xie Y., Sondej M., Wong D.T., Loo J.A.;
RT "Identification of N-linked glycoproteins in human saliva by glycoprotein
RT capture and mass spectrometry.";
RL J. Proteome Res. 5:1493-1503(2006).
CC -!- SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
CC -!- TISSUE SPECIFICITY: Abundantly expressed in placenta and weakly
CC expressed in small intestine. {ECO:0000269|PubMed:12160727}.
CC -!- SIMILARITY: Belongs to the FAM3 family. {ECO:0000305}.
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DR EMBL; AF494381; AAM94282.1; -; mRNA.
DR EMBL; AY358677; AAQ89040.1; -; mRNA.
DR EMBL; AK127546; BAG54521.1; -; mRNA.
DR EMBL; CH471055; EAW65382.1; -; Genomic_DNA.
DR EMBL; BC015359; AAH15359.1; -; mRNA.
DR CCDS; CCDS2893.1; -.
DR RefSeq; NP_620160.1; NM_138805.2.
DR RefSeq; XP_005264919.1; XM_005264862.4.
DR RefSeq; XP_006713028.1; XM_006712965.3.
DR RefSeq; XP_011531653.1; XM_011533351.2.
DR AlphaFoldDB; Q96BQ1; -.
DR SMR; Q96BQ1; -.
DR BioGRID; 126274; 8.
DR IntAct; Q96BQ1; 2.
DR STRING; 9606.ENSP00000351632; -.
DR GlyConnect; 1659; 2 N-Linked glycans (1 site).
DR GlyGen; Q96BQ1; 2 sites, 1 N-linked glycan (1 site), 1 O-linked glycan (1 site).
DR iPTMnet; Q96BQ1; -.
DR PhosphoSitePlus; Q96BQ1; -.
DR BioMuta; FAM3D; -.
DR jPOST; Q96BQ1; -.
DR MassIVE; Q96BQ1; -.
DR PaxDb; Q96BQ1; -.
DR PeptideAtlas; Q96BQ1; -.
DR PRIDE; Q96BQ1; -.
DR ProteomicsDB; 76097; -.
DR Antibodypedia; 31681; 179 antibodies from 28 providers.
DR DNASU; 131177; -.
DR Ensembl; ENST00000358781.7; ENSP00000351632.2; ENSG00000198643.7.
DR GeneID; 131177; -.
DR KEGG; hsa:131177; -.
DR MANE-Select; ENST00000358781.7; ENSP00000351632.2; NM_138805.3; NP_620160.1.
DR UCSC; uc003dkq.4; human.
DR CTD; 131177; -.
DR DisGeNET; 131177; -.
DR GeneCards; FAM3D; -.
DR HGNC; HGNC:18665; FAM3D.
DR HPA; ENSG00000198643; Group enriched (esophagus, intestine, salivary gland).
DR MIM; 608619; gene.
DR neXtProt; NX_Q96BQ1; -.
DR OpenTargets; ENSG00000198643; -.
DR PharmGKB; PA38628; -.
DR VEuPathDB; HostDB:ENSG00000198643; -.
DR eggNOG; ENOG502RCCI; Eukaryota.
DR GeneTree; ENSGT00950000183004; -.
DR HOGENOM; CLU_099478_0_1_1; -.
DR InParanoid; Q96BQ1; -.
DR OMA; FEDHMIM; -.
DR OrthoDB; 1295040at2759; -.
DR PhylomeDB; Q96BQ1; -.
DR TreeFam; TF353414; -.
DR PathwayCommons; Q96BQ1; -.
DR SignaLink; Q96BQ1; -.
DR BioGRID-ORCS; 131177; 6 hits in 1067 CRISPR screens.
DR ChiTaRS; FAM3D; human.
DR GenomeRNAi; 131177; -.
DR Pharos; Q96BQ1; Tbio.
DR PRO; PR:Q96BQ1; -.
DR Proteomes; UP000005640; Chromosome 3.
DR RNAct; Q96BQ1; protein.
DR Bgee; ENSG00000198643; Expressed in lower esophagus mucosa and 139 other tissues.
DR ExpressionAtlas; Q96BQ1; baseline and differential.
DR Genevisible; Q96BQ1; HS.
DR GO; GO:0005576; C:extracellular region; NAS:UniProtKB.
DR GO; GO:0005615; C:extracellular space; IBA:GO_Central.
DR GO; GO:0005125; F:cytokine activity; NAS:UniProtKB.
DR GO; GO:0070093; P:negative regulation of glucagon secretion; IEA:InterPro.
DR GO; GO:0046676; P:negative regulation of insulin secretion; IDA:UniProtKB.
DR CDD; cd13940; ILEI_FAM3C; 1.
DR InterPro; IPR039220; FAM3.
DR InterPro; IPR039240; FAM3D.
DR InterPro; IPR039477; ILEI/PANDER_dom.
DR InterPro; IPR039475; ILEI_FAM3C.
DR PANTHER; PTHR14592; PTHR14592; 1.
DR PANTHER; PTHR14592:SF9; PTHR14592:SF9; 1.
DR Pfam; PF15711; ILEI; 1.
PE 1: Evidence at protein level;
KW Disulfide bond; Glycoprotein; Reference proteome; Secreted; Signal.
FT SIGNAL 1..25
FT /evidence="ECO:0000255"
FT CHAIN 26..224
FT /note="Protein FAM3D"
FT /id="PRO_0000008754"
FT CARBOHYD 107
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000269|PubMed:16740002"
FT DISULFID 55..83
FT /evidence="ECO:0000250"
FT DISULFID 61..218
FT /evidence="ECO:0000250"
FT VARIANT 60
FT /note="P -> S (in dbSNP:rs17059569)"
FT /id="VAR_053087"
FT VARIANT 118
FT /note="A -> S (in dbSNP:rs33966924)"
FT /id="VAR_053088"
SQ SEQUENCE 224 AA; 24963 MW; 153E81C21F193551 CRC64;
MRVSGVLRLL ALIFAIVTTW MFIRSYMSFS MKTIRLPRWL AASPTKEIQV KKYKCGLIKP
CPANYFAFKI CSGAANVVGP TMCFEDRMIM SPVKNNVGRG LNIALVNGTT GAVLGQKAFD
MYSGDVMHLV KFLKEIPGGA LVLVASYDDP GTKMNDESRK LFSDLGSSYA KQLGFRDSWV
FIGAKDLRGK SPFEQFLKNS PDTNKYEGWP ELLEMEGCMP PKPF
