ID   F221A_HUMAN             Reviewed;         298 AA.
AC   A4D161; Q05CG4; Q4G0Q7; Q6P519;
DT   10-JUL-2007, integrated into UniProtKB/Swiss-Prot.
DT   03-APR-2007, sequence version 1.
DT   24-JAN-2024, entry version 114.
DE   RecName: Full=Protein FAM221A;
GN   Name=FAM221A; Synonyms=C7orf46;
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=12690205; DOI=10.1126/science.1083423;
RA   Scherer S.W., Cheung J., MacDonald J.R., Osborne L.R., Nakabayashi K.,
RA   Herbrick J.-A., Carson A.R., Parker-Katiraee L., Skaug J., Khaja R.,
RA   Zhang J., Hudek A.K., Li M., Haddad M., Duggan G.E., Fernandez B.A.,
RA   Kanematsu E., Gentles S., Christopoulos C.C., Choufani S., Kwasnicka D.,
RA   Zheng X.H., Lai Z., Nusskern D.R., Zhang Q., Gu Z., Lu F., Zeesman S.,
RA   Nowaczyk M.J., Teshima I., Chitayat D., Shuman C., Weksberg R.,
RA   Zackai E.H., Grebe T.A., Cox S.R., Kirkpatrick S.J., Rahman N.,
RA   Friedman J.M., Heng H.H.Q., Pelicci P.G., Lo-Coco F., Belloni E.,
RA   Shaffer L.G., Pober B., Morton C.C., Gusella J.F., Bruns G.A.P., Korf B.R.,
RA   Quade B.J., Ligon A.H., Ferguson H., Higgins A.W., Leach N.T.,
RA   Herrick S.R., Lemyre E., Farra C.G., Kim H.-G., Summers A.M., Gripp K.W.,
RA   Roberts W., Szatmari P., Winsor E.J.T., Grzeschik K.-H., Teebi A.,
RA   Minassian B.A., Kere J., Armengol L., Pujana M.A., Estivill X.,
RA   Wilson M.D., Koop B.F., Tosi S., Moore G.E., Boright A.P., Zlotorynski E.,
RA   Kerem B., Kroisel P.M., Petek E., Oscier D.G., Mould S.J., Doehner H.,
RA   Doehner K., Rommens J.M., Vincent J.B., Venter J.C., Li P.W., Mural R.J.,
RA   Adams M.D., Tsui L.-C.;
RT   "Human chromosome 7: DNA sequence and biology.";
RL   Science 300:767-772(2003).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1; 2 AND 3), AND VARIANTS
RP   HIS-20 AND ARG-128.
RC   TISSUE=Blood vessel, Brain, and Lung;
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       A4D161; Q49AR9: ANKS1A; NbExp=3; IntAct=EBI-11960181, EBI-11954519;
CC       A4D161; Q6NVV7: CDPF1; NbExp=3; IntAct=EBI-11960181, EBI-2802782;
CC       A4D161; A8MQ03: CYSRT1; NbExp=3; IntAct=EBI-11960181, EBI-3867333;
CC       A4D161; G5E9A7: DMWD; NbExp=3; IntAct=EBI-11960181, EBI-10976677;
CC       A4D161; P49639: HOXA1; NbExp=7; IntAct=EBI-11960181, EBI-740785;
CC       A4D161; Q07627: KRTAP1-1; NbExp=3; IntAct=EBI-11960181, EBI-11959885;
CC       A4D161; Q3LI59: KRTAP21-2; NbExp=3; IntAct=EBI-11960181, EBI-18395721;
CC       A4D161; Q9BYQ6: KRTAP4-11; NbExp=3; IntAct=EBI-11960181, EBI-10302392;
CC       A4D161; Q9UBR4-2: LHX3; NbExp=3; IntAct=EBI-11960181, EBI-12039345;
CC       A4D161; Q6FHY5: MEOX2; NbExp=3; IntAct=EBI-11960181, EBI-16439278;
CC       A4D161; P0DPK4: NOTCH2NLC; NbExp=3; IntAct=EBI-11960181, EBI-22310682;
CC       A4D161; Q99471: PFDN5; NbExp=3; IntAct=EBI-11960181, EBI-357275;
CC       A4D161; Q8TAS3: PRRG2; NbExp=3; IntAct=EBI-11960181, EBI-10272071;
CC       A4D161; Q7Z699: SPRED1; NbExp=3; IntAct=EBI-11960181, EBI-5235340;
CC       A4D161; P55854: SUMO3; NbExp=3; IntAct=EBI-11960181, EBI-474067;
CC       A4D161; Q8TAU3: ZNF417; NbExp=3; IntAct=EBI-11960181, EBI-740727;
CC   -!- ALTERNATIVE PRODUCTS:
CC       Event=Alternative splicing; Named isoforms=3;
CC       Name=1;
CC         IsoId=A4D161-1; Sequence=Displayed;
CC       Name=2;
CC         IsoId=A4D161-2; Sequence=VSP_026739;
CC       Name=3;
CC         IsoId=A4D161-3; Sequence=VSP_026738, VSP_026739;
CC   -!- SIMILARITY: Belongs to the FAM221 family. {ECO:0000305}.
CC   -!- SEQUENCE CAUTION:
CC       Sequence=AAH26000.1; Type=Frameshift; Evidence={ECO:0000305};
CC       Sequence=AAH42034.1; Type=Frameshift; Evidence={ECO:0000305};
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DR   EMBL; CH236948; EAL24251.1; -; Genomic_DNA.
DR   EMBL; BC026000; AAH26000.1; ALT_FRAME; mRNA.
DR   EMBL; BC042034; AAH42034.1; ALT_FRAME; mRNA.
DR   EMBL; BC063130; AAH63130.1; -; mRNA.
DR   CCDS; CCDS47561.1; -. [A4D161-2]
DR   CCDS; CCDS47562.1; -. [A4D161-3]
DR   CCDS; CCDS5385.1; -. [A4D161-1]
DR   RefSeq; NP_001120836.1; NM_001127364.2. [A4D161-2]
DR   RefSeq; NP_001120837.1; NM_001127365.2. [A4D161-3]
DR   RefSeq; NP_001287861.1; NM_001300932.1.
DR   RefSeq; NP_954587.2; NM_199136.4. [A4D161-1]
DR   RefSeq; XP_011513671.1; XM_011515369.2. [A4D161-1]
DR   RefSeq; XP_016867623.1; XM_017012134.1. [A4D161-2]
DR   AlphaFoldDB; A4D161; -.
DR   BioGRID; 131030; 24.
DR   IntAct; A4D161; 20.
DR   MINT; A4D161; -.
DR   STRING; 9606.ENSP00000342576; -.
DR   GlyCosmos; A4D161; 1 site, 1 glycan.
DR   GlyGen; A4D161; 1 site, 1 O-linked glycan (1 site).
DR   iPTMnet; A4D161; -.
DR   PhosphoSitePlus; A4D161; -.
DR   BioMuta; FAM221A; -.
DR   EPD; A4D161; -.
DR   MassIVE; A4D161; -.
DR   MaxQB; A4D161; -.
DR   PaxDb; 9606-ENSP00000342576; -.
DR   PeptideAtlas; A4D161; -.
DR   ProteomicsDB; 604; -. [A4D161-1]
DR   ProteomicsDB; 605; -. [A4D161-2]
DR   ProteomicsDB; 606; -. [A4D161-3]
DR   Pumba; A4D161; -.
DR   TopDownProteomics; A4D161-1; -. [A4D161-1]
DR   Antibodypedia; 12123; 46 antibodies from 9 providers.
DR   DNASU; 340277; -.
DR   Ensembl; ENST00000344962.9; ENSP00000342576.4; ENSG00000188732.11. [A4D161-1]
DR   Ensembl; ENST00000409192.7; ENSP00000386927.3; ENSG00000188732.11. [A4D161-2]
DR   Ensembl; ENST00000409994.3; ENSP00000386631.3; ENSG00000188732.11. [A4D161-3]
DR   GeneID; 340277; -.
DR   KEGG; hsa:340277; -.
DR   MANE-Select; ENST00000344962.9; ENSP00000342576.4; NM_199136.5; NP_954587.2.
DR   UCSC; uc003swo.4; human. [A4D161-1]
DR   AGR; HGNC:27977; -.
DR   CTD; 340277; -.
DR   GeneCards; FAM221A; -.
DR   HGNC; HGNC:27977; FAM221A.
DR   HPA; ENSG00000188732; Tissue enhanced (brain).
DR   neXtProt; NX_A4D161; -.
DR   OpenTargets; ENSG00000188732; -.
DR   PharmGKB; PA162380501; -.
DR   VEuPathDB; HostDB:ENSG00000188732; -.
DR   eggNOG; ENOG502QR3M; Eukaryota.
DR   GeneTree; ENSGT00770000120611; -.
DR   HOGENOM; CLU_080852_0_0_1; -.
DR   InParanoid; A4D161; -.
DR   OMA; CQCQSYH; -.
DR   OrthoDB; 5470735at2759; -.
DR   PhylomeDB; A4D161; -.
DR   TreeFam; TF329392; -.
DR   PathwayCommons; A4D161; -.
DR   SignaLink; A4D161; -.
DR   BioGRID-ORCS; 340277; 5 hits in 1153 CRISPR screens.
DR   ChiTaRS; FAM221A; human.
DR   GenomeRNAi; 340277; -.
DR   Pharos; A4D161; Tdark.
DR   PRO; PR:A4D161; -.
DR   Proteomes; UP000005640; Chromosome 7.
DR   RNAct; A4D161; Protein.
DR   Bgee; ENSG00000188732; Expressed in buccal mucosa cell and 163 other cell types or tissues.
DR   ExpressionAtlas; A4D161; baseline and differential.
DR   InterPro; IPR026755; Fam221a/b.
DR   PANTHER; PTHR31214:SF2; PROTEIN FAM221A; 1.
DR   PANTHER; PTHR31214; PROTEIN FAM221A-RELATED; 1.
DR   Pfam; PF14753; FAM221; 1.
DR   Genevisible; A4D161; HS.
PE   1: Evidence at protein level;
KW   Alternative splicing; Reference proteome.
FT   CHAIN           1..298
FT                   /note="Protein FAM221A"
FT                   /id="PRO_0000295139"
FT   REGION          241..263
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        241..257
FT                   /note="Polar residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   VAR_SEQ         23..80
FT                   /note="Missing (in isoform 3)"
FT                   /evidence="ECO:0000303|PubMed:15489334"
FT                   /id="VSP_026738"
FT   VAR_SEQ         213..248
FT                   /note="Missing (in isoform 2 and isoform 3)"
FT                   /evidence="ECO:0000303|PubMed:15489334"
FT                   /id="VSP_026739"
FT   VARIANT         20
FT                   /note="Y -> H (in dbSNP:rs17855785)"
FT                   /evidence="ECO:0000269|PubMed:15489334"
FT                   /id="VAR_033215"
FT   VARIANT         90
FT                   /note="A -> T (in dbSNP:rs34518648)"
FT                   /id="VAR_033216"
FT   VARIANT         95
FT                   /note="C -> R (in dbSNP:rs35495590)"
FT                   /id="VAR_033217"
FT   VARIANT         128
FT                   /note="H -> R (in dbSNP:rs17855786)"
FT                   /evidence="ECO:0000269|PubMed:15489334"
FT                   /id="VAR_033218"
FT   VARIANT         240
FT                   /note="S -> G (in dbSNP:rs35928055)"
FT                   /id="VAR_033219"
FT   CONFLICT        101
FT                   /note="C -> R (in Ref. 2; AAH42034)"
FT                   /evidence="ECO:0000305"
SQ   SEQUENCE   298 AA;  33083 MW;  ED00395F79B78288 CRC64;
     MERLTLPLGG AAAVDEYLEY RRIVGEDDGG KLFTPEEYEE YKRKVLPLRL QNRLFVSWRS
     PTGMDCKLVG PETLCFCTHR YKQHKTDLEA IPQQCPIDLP CQVTGCQCRA YLYVPLNGSQ
     PIRCRCKHFA DQHSAAPGFT CNTCSKCSGF HSCFTCACGQ PAYAHDTVVE TKQERLAQEK
     PVGQDIPYAA MGGLTGFSSL AEGYMRLDDS GIGVPSVEFL ESPITAVDSP FLKAFQASSS
     SSPETLTDVG TSSQVSSLRR PEEDDMAFFE RRYQERMKME KAAKWKGKAP LPSATKPS
//