FAM3A_HUMAN
ID FAM3A_HUMAN Reviewed; 230 AA.
AC P98173; A6QRH6; B2RBI7; B4DFI8; D3DWX4; Q5HY76; Q96H51;
DT 01-OCT-1996, integrated into UniProtKB/Swiss-Prot.
DT 28-NOV-2006, sequence version 2.
DT 03-AUG-2022, entry version 165.
DE RecName: Full=Protein FAM3A;
DE AltName: Full=Cytokine-like protein 2-19;
DE Flags: Precursor;
GN Name=FAM3A; Synonyms=2-19, 2.19;
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 1), AND VARIANT CYS-213.
RC TISSUE=Fetal brain;
RX PubMed=8248200; DOI=10.1073/pnas.90.23.10977;
RA Bione S., Tamanini F., Maestrini E., Tribioli C., Poustka A., Torri G.,
RA Rivella S., Toniolo D.;
RT "Transcriptional organization of a 450-kb region of the human X chromosome
RT in Xq28.";
RL Proc. Natl. Acad. Sci. U.S.A. 90:10977-10981(1993).
RN [2]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANT CYS-213.
RA Zollo M., Mazzarella R., Bione S., Toniolo D., Schlessinger D., D'Urso M.,
RA Chen E.Y.;
RL Submitted (MAY-1991) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANT CYS-213.
RX PubMed=8733135; DOI=10.1093/hmg/5.5.659;
RA Chen E.Y., Zollo M., Mazzarella R.A., Ciccodicola A., Chen C.-N., Zuo L.,
RA Heiner C., Burough F.W., Ripetto M., Schlessinger D., D'Urso M.;
RT "Long-range sequence analysis in Xq28: thirteen known and six candidate
RT genes in 219.4 kb of high GC DNA between the RCP/GCP and G6PD loci.";
RL Hum. Mol. Genet. 5:659-668(1996).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
RC TISSUE=Brain cortex, and 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 [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15772651; DOI=10.1038/nature03440;
RA Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D.,
RA Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L.,
RA Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C.,
RA Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A.,
RA Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P.,
RA Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D.,
RA Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D.,
RA Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L.,
RA Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P.,
RA Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G.,
RA Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J.,
RA Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D.,
RA Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L.,
RA Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z.,
RA Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S.,
RA Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S.,
RA Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O.,
RA Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H.,
RA Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T.,
RA Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L.,
RA Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R.,
RA Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y.,
RA Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K.,
RA Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J.,
RA Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L.,
RA Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S.,
RA Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A.,
RA Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L.,
RA Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D.,
RA Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H.,
RA McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S.,
RA Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C.,
RA Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S.,
RA Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V.,
RA Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K.,
RA Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K.,
RA Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D.,
RA Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R.,
RA Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B.,
RA Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C.,
RA d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q.,
RA Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N.,
RA Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A.,
RA Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J.,
RA Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A.,
RA Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F.,
RA Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L.,
RA Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S.,
RA Rogers J., Bentley D.R.;
RT "The DNA sequence of the human X chromosome.";
RL Nature 434:325-337(2005).
RN [6]
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 [7]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Pancreas;
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 [8]
RP CHARACTERIZATION.
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).
CC -!- FUNCTION: May act as a defensin against invading fungal microorganisms.
CC -!- SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=P98173-1; Sequence=Displayed;
CC Name=2;
CC IsoId=P98173-2; Sequence=VSP_042778;
CC Name=3;
CC IsoId=P98173-3; Sequence=VSP_046733;
CC -!- TISSUE SPECIFICITY: In similar amounts in testis, pancreas, adrenal,
CC placenta, brain, fetal brain, liver, kidney, skeletal muscle and heart.
CC -!- SIMILARITY: Belongs to the FAM3 family. {ECO:0000305}.
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DR EMBL; X55448; CAA39090.1; -; Genomic_DNA.
DR EMBL; X87193; CAA60645.1; -; mRNA.
DR EMBL; L44140; AAA92652.1; -; Genomic_DNA.
DR EMBL; AK294116; BAG57449.1; -; mRNA.
DR EMBL; AK314682; BAG37234.1; -; mRNA.
DR EMBL; BX664739; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471172; EAW72689.1; -; Genomic_DNA.
DR EMBL; CH471172; EAW72692.1; -; Genomic_DNA.
DR EMBL; CH471172; EAW72693.1; -; Genomic_DNA.
DR EMBL; CH471172; EAW72694.1; -; Genomic_DNA.
DR EMBL; CH471172; EAW72695.1; -; Genomic_DNA.
DR EMBL; BC008912; AAH08912.1; -; mRNA.
DR CCDS; CCDS35453.1; -. [P98173-1]
DR CCDS; CCDS55542.1; -. [P98173-3]
DR CCDS; CCDS55543.1; -. [P98173-2]
DR PIR; I37095; I37095.
DR RefSeq; NP_001164603.1; NM_001171132.2. [P98173-1]
DR RefSeq; NP_001164604.1; NM_001171133.2. [P98173-3]
DR RefSeq; NP_001164605.1; NM_001171134.2. [P98173-2]
DR RefSeq; NP_001269240.1; NM_001282311.1.
DR RefSeq; NP_001269241.1; NM_001282312.1. [P98173-1]
DR RefSeq; NP_068578.2; NM_021806.3. [P98173-1]
DR RefSeq; XP_005277936.1; XM_005277879.4. [P98173-2]
DR AlphaFoldDB; P98173; -.
DR SMR; P98173; -.
DR BioGRID; 121898; 20.
DR IntAct; P98173; 3.
DR MINT; P98173; -.
DR STRING; 9606.ENSP00000320521; -.
DR iPTMnet; P98173; -.
DR PhosphoSitePlus; P98173; -.
DR BioMuta; FAM3A; -.
DR EPD; P98173; -.
DR jPOST; P98173; -.
DR MassIVE; P98173; -.
DR MaxQB; P98173; -.
DR PaxDb; P98173; -.
DR PeptideAtlas; P98173; -.
DR PRIDE; P98173; -.
DR ProteomicsDB; 1753; -.
DR ProteomicsDB; 57807; -. [P98173-1]
DR ProteomicsDB; 57808; -. [P98173-2]
DR Antibodypedia; 45386; 159 antibodies from 24 providers.
DR DNASU; 60343; -.
DR Ensembl; ENST00000359889.9; ENSP00000352955.5; ENSG00000071889.17. [P98173-1]
DR Ensembl; ENST00000369643.5; ENSP00000358657.1; ENSG00000071889.17. [P98173-1]
DR Ensembl; ENST00000393572.5; ENSP00000377202.1; ENSG00000071889.17. [P98173-3]
DR Ensembl; ENST00000419205.5; ENSP00000393086.2; ENSG00000071889.17. [P98173-2]
DR Ensembl; ENST00000447601.7; ENSP00000416146.2; ENSG00000071889.17. [P98173-1]
DR GeneID; 60343; -.
DR KEGG; hsa:60343; -.
DR MANE-Select; ENST00000447601.7; ENSP00000416146.2; NM_021806.4; NP_068578.2.
DR UCSC; uc004fls.4; human. [P98173-1]
DR CTD; 60343; -.
DR DisGeNET; 60343; -.
DR GeneCards; FAM3A; -.
DR HGNC; HGNC:13749; FAM3A.
DR HPA; ENSG00000071889; Low tissue specificity.
DR MIM; 300492; gene.
DR neXtProt; NX_P98173; -.
DR OpenTargets; ENSG00000071889; -.
DR PharmGKB; PA38366; -.
DR VEuPathDB; HostDB:ENSG00000071889; -.
DR eggNOG; ENOG502QUEU; Eukaryota.
DR GeneTree; ENSGT00950000183004; -.
DR HOGENOM; CLU_099478_1_0_1; -.
DR InParanoid; P98173; -.
DR OrthoDB; 1295040at2759; -.
DR PhylomeDB; P98173; -.
DR TreeFam; TF353414; -.
DR PathwayCommons; P98173; -.
DR SignaLink; P98173; -.
DR BioGRID-ORCS; 60343; 16 hits in 703 CRISPR screens.
DR ChiTaRS; FAM3A; human.
DR GenomeRNAi; 60343; -.
DR Pharos; P98173; Tbio.
DR PRO; PR:P98173; -.
DR Proteomes; UP000005640; Chromosome X.
DR RNAct; P98173; protein.
DR Bgee; ENSG00000071889; Expressed in lower esophagus mucosa and 181 other tissues.
DR ExpressionAtlas; P98173; baseline and differential.
DR Genevisible; P98173; HS.
DR GO; GO:0005615; C:extracellular space; IBA:GO_Central.
DR GO; GO:0019732; P:antifungal humoral response; IDA:UniProtKB.
DR GO; GO:0061844; P:antimicrobial humoral immune response mediated by antimicrobial peptide; IDA:UniProtKB.
DR GO; GO:1905035; P:negative regulation of antifungal innate immune response; IDA:UniProtKB.
DR GO; GO:0045721; P:negative regulation of gluconeogenesis; IEA:InterPro.
DR GO; GO:0046890; P:regulation of lipid biosynthetic process; IEA:InterPro.
DR CDD; cd13940; ILEI_FAM3C; 1.
DR InterPro; IPR039220; FAM3.
DR InterPro; IPR039221; FAM3A.
DR InterPro; IPR039477; ILEI/PANDER_dom.
DR InterPro; IPR039475; ILEI_FAM3C.
DR PANTHER; PTHR14592; PTHR14592; 1.
DR PANTHER; PTHR14592:SF11; PTHR14592:SF11; 1.
DR Pfam; PF15711; ILEI; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Disulfide bond; Reference proteome; Secreted; Signal.
FT SIGNAL 1..33
FT /evidence="ECO:0000255"
FT CHAIN 34..230
FT /note="Protein FAM3A"
FT /id="PRO_0000008748"
FT DISULFID 59..87
FT /evidence="ECO:0000250"
FT DISULFID 65..222
FT /evidence="ECO:0000250"
FT VAR_SEQ 6..43
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000305"
FT /id="VSP_046733"
FT VAR_SEQ 112..128
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_042778"
FT VARIANT 21
FT /note="I -> M (in dbSNP:rs35985994)"
FT /id="VAR_057531"
FT VARIANT 213
FT /note="W -> C (in dbSNP:rs1050788)"
FT /evidence="ECO:0000269|PubMed:8248200,
FT ECO:0000269|PubMed:8733135, ECO:0000269|Ref.2"
FT /id="VAR_011923"
SQ SEQUENCE 230 AA; 25152 MW; FE23EE191F98CAAD CRC64;
MRLAGPLRIV VLVVSVGVTW IVVSILLGGP GSGFPRIQQL FTSPESSVTA APRARKYKCG
LPQPCPEEHL AFRVVSGAAN VIGPKICLED KMLMSSVKDN VGRGLNIALV NGVSGELIEA
RAFDMWAGDV NDLLKFIRPL HEGTLVFVAS YDDPATKMNE ETRKLFSELG SRNAKELAFR
DSWVFVGAKG VQNKSPFEQH VKNSKHSNKY EGWPEALEME GCIPRRSTAS
