F214A_HUMAN
ID F214A_HUMAN Reviewed; 1076 AA.
AC Q32MH5; A8KA52; B4DEP5; B4DF40; F5H8G0; Q32MH6; Q4G0R7; Q5XJ16; Q6PDA3;
AC Q9NV24; Q9P2H7;
DT 15-JAN-2008, integrated into UniProtKB/Swiss-Prot.
DT 15-JAN-2008, sequence version 2.
DT 03-AUG-2022, entry version 111.
DE RecName: Full=Protein FAM214A;
GN Name=FAM214A; Synonyms=KIAA1370;
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), AND VARIANT ILE-560.
RC TISSUE=Brain;
RX PubMed=10718198; DOI=10.1093/dnares/7.1.65;
RA Nagase T., Kikuno R., Ishikawa K., Hirosawa M., Ohara O.;
RT "Prediction of the coding sequences of unidentified human genes. XVI. The
RT complete sequences of 150 new cDNA clones from brain which code for large
RT proteins in vitro.";
RL DNA Res. 7:65-73(2000).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 3), NUCLEOTIDE
RP SEQUENCE [LARGE SCALE MRNA] OF 189-1076 (ISOFORM 2), AND VARIANT ILE-560.
RC TISSUE=Cerebellum, Placenta, and Trachea;
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=16572171; DOI=10.1038/nature04601;
RA Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K.,
RA Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K.,
RA FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N.,
RA Abouelleil A., Arachchi H.M., Baradarani L., Birditt B., Bloom S.,
RA Bloom T., Borowsky M.L., Burke J., Butler J., Cook A., DeArellano K.,
RA DeCaprio D., Dorris L. III, Dors M., Eichler E.E., Engels R., Fahey J.,
RA Fleetwood P., Friedman C., Gearin G., Hall J.L., Hensley G., Johnson E.,
RA Jones C., Kamat A., Kaur A., Locke D.P., Madan A., Munson G., Jaffe D.B.,
RA Lui A., Macdonald P., Mauceli E., Naylor J.W., Nesbitt R., Nicol R.,
RA O'Leary S.B., Ratcliffe A., Rounsley S., She X., Sneddon K.M.B.,
RA Stewart S., Sougnez C., Stone S.M., Topham K., Vincent D., Wang S.,
RA Zimmer A.R., Birren B.W., Hood L., Lander E.S., Nusbaum C.;
RT "Analysis of the DNA sequence and duplication history of human chromosome
RT 15.";
RL Nature 440:671-675(2006).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], AND VARIANT ILE-560.
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] (ISOFORMS 1 AND 2), AND VARIANT
RP ILE-560.
RC TISSUE=Hypothalamus, Skin, and Testis;
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 Q32MH5; Q08379: GOLGA2; NbExp=3; IntAct=EBI-2866142, EBI-618309;
CC Q32MH5; Q6A162: KRT40; NbExp=3; IntAct=EBI-2866142, EBI-10171697;
CC Q32MH5; P43360: MAGEA6; NbExp=3; IntAct=EBI-2866142, EBI-1045155;
CC Q32MH5; Q9UJV3-2: MID2; NbExp=3; IntAct=EBI-2866142, EBI-10172526;
CC Q32MH5; Q9Y2D8: SSX2IP; NbExp=3; IntAct=EBI-2866142, EBI-2212028;
CC Q32MH5; P14373: TRIM27; NbExp=3; IntAct=EBI-2866142, EBI-719493;
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q32MH5-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q32MH5-2; Sequence=VSP_030580, VSP_030581;
CC Name=3;
CC IsoId=Q32MH5-3; Sequence=VSP_042435;
CC -!- SIMILARITY: Belongs to the FAM214 family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAA91936.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC Sequence=BAA92608.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
CC Sequence=BAG57156.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC ---------------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution (CC BY 4.0) License
CC ---------------------------------------------------------------------------
DR EMBL; AB037791; BAA92608.1; ALT_INIT; mRNA.
DR EMBL; AK001842; BAA91936.1; ALT_INIT; mRNA.
DR EMBL; AK292917; BAF85606.1; -; mRNA.
DR EMBL; AK293730; BAG57156.1; ALT_INIT; mRNA.
DR EMBL; AK293920; BAG57301.1; -; mRNA.
DR EMBL; AC009754; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC025917; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471082; EAW77460.1; -; Genomic_DNA.
DR EMBL; BC040548; AAH40548.1; -; mRNA.
DR EMBL; BC058839; AAH58839.1; -; mRNA.
DR EMBL; BC083498; AAH83498.1; -; mRNA.
DR EMBL; BC109127; AAI09128.1; -; mRNA.
DR EMBL; BC109128; AAI09129.1; -; mRNA.
DR CCDS; CCDS45263.1; -. [Q32MH5-1]
DR CCDS; CCDS66773.1; -. [Q32MH5-3]
DR RefSeq; NP_001273424.1; NM_001286495.1. [Q32MH5-3]
DR RefSeq; NP_062546.2; NM_019600.3. [Q32MH5-1]
DR RefSeq; XP_005254604.1; XM_005254547.2. [Q32MH5-1]
DR RefSeq; XP_005254605.1; XM_005254548.2. [Q32MH5-1]
DR RefSeq; XP_011520091.1; XM_011521789.2. [Q32MH5-1]
DR AlphaFoldDB; Q32MH5; -.
DR BioGRID; 121108; 10.
DR IntAct; Q32MH5; 10.
DR MINT; Q32MH5; -.
DR STRING; 9606.ENSP00000443598; -.
DR GlyGen; Q32MH5; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q32MH5; -.
DR PhosphoSitePlus; Q32MH5; -.
DR BioMuta; FAM214A; -.
DR DMDM; 166218826; -.
DR EPD; Q32MH5; -.
DR MassIVE; Q32MH5; -.
DR PaxDb; Q32MH5; -.
DR PeptideAtlas; Q32MH5; -.
DR PRIDE; Q32MH5; -.
DR ProteomicsDB; 61600; -. [Q32MH5-1]
DR ProteomicsDB; 61601; -. [Q32MH5-2]
DR ProteomicsDB; 61602; -. [Q32MH5-3]
DR Antibodypedia; 51855; 21 antibodies from 7 providers.
DR DNASU; 56204; -.
DR Ensembl; ENST00000261844.11; ENSP00000261844.7; ENSG00000047346.13. [Q32MH5-1]
DR Ensembl; ENST00000534964.6; ENSP00000444447.2; ENSG00000047346.13. [Q32MH5-2]
DR Ensembl; ENST00000546305.6; ENSP00000443598.2; ENSG00000047346.13. [Q32MH5-3]
DR Ensembl; ENST00000619572.5; ENSP00000484641.1; ENSG00000047346.13. [Q32MH5-1]
DR GeneID; 56204; -.
DR KEGG; hsa:56204; -.
DR MANE-Select; ENST00000619572.5; ENSP00000484641.1; NM_001385016.1; NP_001371945.1.
DR UCSC; uc002acg.6; human. [Q32MH5-1]
DR CTD; 56204; -.
DR GeneCards; FAM214A; -.
DR HGNC; HGNC:25609; FAM214A.
DR HPA; ENSG00000047346; Low tissue specificity.
DR neXtProt; NX_Q32MH5; -.
DR OpenTargets; ENSG00000047346; -.
DR PharmGKB; PA142671609; -.
DR VEuPathDB; HostDB:ENSG00000047346; -.
DR eggNOG; KOG2306; Eukaryota.
DR GeneTree; ENSGT00940000157573; -.
DR HOGENOM; CLU_011957_0_0_1; -.
DR InParanoid; Q32MH5; -.
DR OMA; VPHPYSK; -.
DR OrthoDB; 383904at2759; -.
DR PhylomeDB; Q32MH5; -.
DR TreeFam; TF325496; -.
DR PathwayCommons; Q32MH5; -.
DR SignaLink; Q32MH5; -.
DR BioGRID-ORCS; 56204; 19 hits in 1084 CRISPR screens.
DR ChiTaRS; FAM214A; human.
DR GenomeRNAi; 56204; -.
DR Pharos; Q32MH5; Tdark.
DR PRO; PR:Q32MH5; -.
DR Proteomes; UP000005640; Chromosome 15.
DR RNAct; Q32MH5; protein.
DR Bgee; ENSG00000047346; Expressed in upper arm skin and 181 other tissues.
DR ExpressionAtlas; Q32MH5; baseline and differential.
DR Genevisible; Q32MH5; HS.
DR InterPro; IPR025261; DUF4210.
DR InterPro; IPR033473; FAM214/SPAC3H8.04_C.
DR Pfam; PF13889; Chromosome_seg; 1.
DR Pfam; PF13915; DUF4210; 1.
DR SMART; SM01177; DUF4210; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Reference proteome.
FT CHAIN 1..1076
FT /note="Protein FAM214A"
FT /id="PRO_0000315613"
FT REGION 700..721
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 739..765
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 739..754
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1..5
FT /note="MKPDR -> MVFSGNKGLHRE (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_042435"
FT VAR_SEQ 960..963
FT /note="TLFN -> VCVL (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_030580"
FT VAR_SEQ 964..1076
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_030581"
FT VARIANT 135
FT /note="Q -> R (in dbSNP:rs8036680)"
FT /id="VAR_038258"
FT VARIANT 560
FT /note="V -> I (in dbSNP:rs12915981)"
FT /evidence="ECO:0000269|PubMed:10718198,
FT ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334,
FT ECO:0000269|Ref.4"
FT /id="VAR_038259"
FT CONFLICT 41
FT /note="T -> I (in Ref. 5; AAI09128)"
FT /evidence="ECO:0000305"
FT CONFLICT 207
FT /note="V -> A (in Ref. 2; BAF85606)"
FT /evidence="ECO:0000305"
FT CONFLICT 610
FT /note="T -> A (in Ref. 2; BAF85606/BAG57301 and 5;
FT AAI09129)"
FT /evidence="ECO:0000305"
FT CONFLICT 641
FT /note="Y -> C (in Ref. 2; BAG57301)"
FT /evidence="ECO:0000305"
FT CONFLICT 750
FT /note="E -> G (in Ref. 2; BAF85606)"
FT /evidence="ECO:0000305"
FT CONFLICT 956
FT /note="T -> A (in Ref. 2; BAA91936)"
FT /evidence="ECO:0000305"
FT CONFLICT 1028
FT /note="Q -> R (in Ref. 5; AAH83498)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 1076 AA; 121670 MW; 304B1C93DB92B18E CRC64;
MKPDRDTLDE YFEYDAEEFL VSLALLITEG RTPECSVKGR TESFHCPPAQ SCYPVTTKHE
CSDKLAQCRQ ARRTRSEVTL LWKNNLPIMV EMMLLPDCCY SDDGPTTEGI DLNDPAIKQD
ALLLERWILE PVPRQNGDRF IEEKTLLLAV RSFVFFSQLS AWLSVSHGAI PRNILYRISA
ADVDLQWNFS QTPIEHVFPV PNVSHNVALK VSVQSLPRQS NYPVLTCSIH TNIGLYEKRI
QQHKLKTHQH HNPNEAEQCG TNSSQRLCSK QTWTMAPESV LHAKSGPSPE YTAAVKNIKL
YPGTGSKSDH GTSQANILGF SGIGDIKSQE TSVRTLKSFS MVDSSISNRQ SFWQSAGETN
PLIGSLIQER QEIIARIAQH LIHCDPSTSH VSGRPFNTQE SSSLHSKLFR VSQENENVGK
GKEAFSMTFG SPEFSSPEDT NEGKIRLKPE TPRSETCISN DFYSHMPVGE TNPLIGSLLQ
ERQDVIARIA QHLEHIDPTA SHIPRQSFNM HDSSSVASKV FRSSYEDKNL LKKNKDESSV
SISHTKCSLL GDISDGKNLV PNKCFTSFKN NSKEKCSLKH QTRNQCQNNP SEIIQSTYQE
TQNKSSSLST SSILSQHKEN NLDLTSRFKE QEMSNGIDKQ YSNCTTIDKQ ICTNKYKEKI
INENYNPKFF GNLQSDDSKK NDSKIKVTVL EMSEYLNKYE SMSSNKDSKR PKTCEQNTQL
NSIENYLNKD NEGFKCKKSD QLKNEQDKQE DPTNEKSQNY SQRRSIKDCL STCEQPKNTE
VLRTTLKHSN VWRKHNFHSL DGTSTRAFHP QTGLPLLSSP VPQRKTQSGC FDLDSSLLHL
KSFSSRSPRP CLNIEDDPDI HEKPFLSSSA PPITSLSLLG NFEESVLNYR FDPLGIVDGF
TAEVGASGAF CPTHLTLPVE VSFYSVSDDN APSPYMGVIT LESLGKRGYR VPPSGTIQVT
LFNPNKTVVK MFVVIYDLRD MPANHQTFLR QRTFSVPVKQ EVKRSVNKEN IRHTEERLLR
YLIHLRFQSS KSGKIYLHRD VRLLFSRKSM EVDSGAAYEL KSYTESPTNP QFSPRC
