F149A_HUMAN
ID F149A_HUMAN Reviewed; 773 AA.
AC A5PLN7; B5MDB8; Q2TAN6; Q7Z2S5; Q9Y4T9;
DT 26-FEB-2008, integrated into UniProtKB/Swiss-Prot.
DT 26-FEB-2008, sequence version 2.
DT 03-AUG-2022, entry version 97.
DE RecName: Full=Protein FAM149A;
GN Name=FAM149A; ORFNames=MST119;
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 GENOMIC DNA].
RX PubMed=15815621; DOI=10.1038/nature03466;
RA Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P.,
RA Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C.,
RA Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L.,
RA Du H., Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A.,
RA Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J.,
RA Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M.,
RA Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T.,
RA Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S.,
RA Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K.,
RA McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C.,
RA Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S.,
RA Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C.,
RA Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M.,
RA Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C.,
RA Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J.,
RA Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E.,
RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X.,
RA Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M.,
RA Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C.,
RA Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S.,
RA Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H.,
RA Wilson R.K.;
RT "Generation and annotation of the DNA sequences of human chromosomes 2 and
RT 4.";
RL Nature 434:724-731(2005).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), AND VARIANTS GLU-332;
RP GLU-437 AND ARG-505.
RC TISSUE=Brain;
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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 212-773.
RC TISSUE=Heart;
RA Qin B.M., Wang X.Y., Zhao B., Liu B., Liu Y.Q., Sheng H., Hui R.T.;
RT "Homo sapiens normal heart mRNA MST119.";
RL Submitted (AUG-1999) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 417-773, AND VARIANTS GLU-437 AND
RP ARG-505.
RC TISSUE=Brain;
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).
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=4;
CC Name=1;
CC IsoId=A5PLN7-1; Sequence=Displayed;
CC Name=2;
CC IsoId=A5PLN7-2; Sequence=VSP_031530;
CC Name=3;
CC IsoId=A5PLN7-3; Sequence=VSP_031532;
CC Name=4;
CC IsoId=A5PLN7-4; Sequence=VSP_031531;
CC -!- SIMILARITY: Belongs to the FAM149 family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAI10817.1; Type=Erroneous initiation; Evidence={ECO:0000305};
CC Sequence=AAQ13641.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC Sequence=AAQ13641.1; Type=Frameshift; Evidence={ECO:0000305};
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DR EMBL; AC104070; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC110771; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC110816; AAI10817.1; ALT_INIT; mRNA.
DR EMBL; BC142992; AAI42993.1; -; mRNA.
DR EMBL; AF173894; AAQ13641.1; ALT_SEQ; mRNA.
DR EMBL; AL080065; CAB45695.2; -; mRNA.
DR CCDS; CCDS34117.1; -. [A5PLN7-2]
DR PIR; T12464; T12464.
DR RefSeq; NP_001006656.1; NM_001006655.2. [A5PLN7-2]
DR RefSeq; NP_056213.1; NM_015398.2. [A5PLN7-2]
DR RefSeq; XP_016863486.1; XM_017007997.1.
DR RefSeq; XP_016863491.1; XM_017008002.1.
DR RefSeq; XP_016863492.1; XM_017008003.1.
DR RefSeq; XP_016863493.1; XM_017008004.1.
DR RefSeq; XP_016863494.1; XM_017008005.1.
DR AlphaFoldDB; A5PLN7; -.
DR SMR; A5PLN7; -.
DR BioGRID; 117378; 2.
DR IntAct; A5PLN7; 1.
DR STRING; 9606.ENSP00000227065; -.
DR iPTMnet; A5PLN7; -.
DR PhosphoSitePlus; A5PLN7; -.
DR BioMuta; FAM149A; -.
DR jPOST; A5PLN7; -.
DR MassIVE; A5PLN7; -.
DR PaxDb; A5PLN7; -.
DR PeptideAtlas; A5PLN7; -.
DR PRIDE; A5PLN7; -.
DR ProteomicsDB; 740; -. [A5PLN7-1]
DR ProteomicsDB; 741; -. [A5PLN7-2]
DR ProteomicsDB; 742; -. [A5PLN7-3]
DR ProteomicsDB; 743; -. [A5PLN7-4]
DR Antibodypedia; 64772; 10 antibodies from 5 providers.
DR DNASU; 25854; -.
DR Ensembl; ENST00000227065.8; ENSP00000227065.4; ENSG00000109794.14. [A5PLN7-2]
DR Ensembl; ENST00000356371.9; ENSP00000348732.5; ENSG00000109794.14. [A5PLN7-1]
DR Ensembl; ENST00000502970.5; ENSP00000427155.1; ENSG00000109794.14. [A5PLN7-2]
DR Ensembl; ENST00000503432.5; ENSP00000426835.1; ENSG00000109794.14. [A5PLN7-2]
DR Ensembl; ENST00000514153.5; ENSP00000424380.1; ENSG00000109794.14. [A5PLN7-2]
DR GeneID; 25854; -.
DR KEGG; hsa:25854; -.
DR UCSC; uc003iyt.5; human. [A5PLN7-1]
DR CTD; 25854; -.
DR DisGeNET; 25854; -.
DR GeneCards; FAM149A; -.
DR HGNC; HGNC:24527; FAM149A.
DR HPA; ENSG00000109794; Tissue enhanced (liver).
DR neXtProt; NX_A5PLN7; -.
DR OpenTargets; ENSG00000109794; -.
DR PharmGKB; PA162386366; -.
DR VEuPathDB; HostDB:ENSG00000109794; -.
DR eggNOG; ENOG502QQUG; Eukaryota.
DR GeneTree; ENSGT00530000063727; -.
DR HOGENOM; CLU_018180_0_0_1; -.
DR InParanoid; A5PLN7; -.
DR OMA; NEQEDKP; -.
DR OrthoDB; 538466at2759; -.
DR PhylomeDB; A5PLN7; -.
DR TreeFam; TF330725; -.
DR PathwayCommons; A5PLN7; -.
DR SignaLink; A5PLN7; -.
DR BioGRID-ORCS; 25854; 13 hits in 1065 CRISPR screens.
DR ChiTaRS; FAM149A; human.
DR GenomeRNAi; 25854; -.
DR Pharos; A5PLN7; Tdark.
DR PRO; PR:A5PLN7; -.
DR Proteomes; UP000005640; Chromosome 4.
DR RNAct; A5PLN7; protein.
DR Bgee; ENSG00000109794; Expressed in oocyte and 187 other tissues.
DR ExpressionAtlas; A5PLN7; baseline and differential.
DR Genevisible; A5PLN7; HS.
DR InterPro; IPR022194; DUF3719.
DR InterPro; IPR039630; FAM149.
DR PANTHER; PTHR31997; PTHR31997; 1.
DR Pfam; PF12516; DUF3719; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Reference proteome.
FT CHAIN 1..773
FT /note="Protein FAM149A"
FT /id="PRO_0000319930"
FT REGION 18..155
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 169..210
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 232..264
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 568..613
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 68..82
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 183..205
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1..291
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_031530"
FT VAR_SEQ 227..235
FT /note="Missing (in isoform 4)"
FT /evidence="ECO:0000305"
FT /id="VSP_031531"
FT VAR_SEQ 723
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000305"
FT /id="VSP_031532"
FT VARIANT 332
FT /note="K -> E (in dbSNP:rs4862650)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_039050"
FT VARIANT 437
FT /note="K -> E (in dbSNP:rs4862653)"
FT /evidence="ECO:0000269|PubMed:15489334,
FT ECO:0000269|PubMed:17974005"
FT /id="VAR_039051"
FT VARIANT 505
FT /note="H -> R (in dbSNP:rs2276924)"
FT /evidence="ECO:0000269|PubMed:15489334,
FT ECO:0000269|PubMed:17974005"
FT /id="VAR_039052"
FT VARIANT 532
FT /note="P -> L (in dbSNP:rs2276922)"
FT /id="VAR_039053"
FT VARIANT 722
FT /note="R -> W (in dbSNP:rs9991339)"
FT /id="VAR_039054"
FT VARIANT 748
FT /note="L -> V (in dbSNP:rs6818265)"
FT /id="VAR_039055"
FT CONFLICT 431
FT /note="P -> L (in Ref. 4; CAB45695)"
FT /evidence="ECO:0000305"
FT CONFLICT 635
FT /note="R -> G (in Ref. 3; AAQ13641)"
FT /evidence="ECO:0000305"
FT CONFLICT 644
FT /note="D -> N (in Ref. 2; AAI42993)"
FT /evidence="ECO:0000305"
FT CONFLICT 730
FT /note="S -> G (in Ref. 4; CAB45695)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 773 AA; 82698 MW; 287183E70F1901E5 CRC64;
MKAAVLDLGS LLAKLFETST APPAGPSSRP SGGAAAAGSG GSRAGTPLGT APTLLRALAP
DSPSASRRSP APLLSSPYSR GSAASRAAGA VGTLLSWPSS PRAGKAPPQP PTPSGGGCSP
ARLVVPARPP SGPGGVWAAL PRNPLQPGPG ERELGACVAP GAGPRTLFLT LPDIGEEGAS
DGDSGDGEAR GLSEGRRRHG FTVRSKDSLP THFTRNVQKA IDKYTCKSLS SFSSSGSHTP
TGAHTSWSGS ATQSSTTGSS TERGSVYSWR DDEFDEASSQ SVQRLLWEVE EMLFEGKVNP
QTQSLLAECG EWTRRSLHLR VLGRQLILPT DKGVQHFQGS TPASAVHRPP LSACGHSSNI
RELCISGSQI VPAALSASAL PGPDDTGVAD LTARSSLEEE VYHVDGKIEE YFAFDRKEDD
DECLEQKPAQ PGRKWRKLGL PPVSPRDCVK DAVAAEVFDH VWTNMVELLE ELIRKHWETT
LTEGKKQRET LKVAGNRFPH VLVPHAHADG ASGPPSGHAE AHGISLASRL NPPQIHHFSS
SFYSDMNGVM TIQAKPLQRR PAYFADRTQN EKEDKASGGG AGALSSAPHR LGRASDTHGL
SPSAKKTPVP WRLPSLASDS QRLKTPNIYS DEVLRGTKLP TGVDHMASPL VQTSRSRFPP
LVTETRGQNT AVPGCRLVSY RGRHLQNRVL SAMPDGTERS RLRERTATLE RLSRPSTTHT
FRQSDTPRKS SLTQMEFAAH TWTGQSILTG SQYVPKSFQR TTLTFKRRFQ VTS
