F221A_HUMAN
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 03-AUG-2022, entry version 107.
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 AlphaFoldDB; A4D161; -.
DR BioGRID; 131030; 23.
DR IntAct; A4D161; 20.
DR MINT; A4D161; -.
DR STRING; 9606.ENSP00000342576; -.
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; A4D161; -.
DR PeptideAtlas; A4D161; -.
DR PRIDE; A4D161; -.
DR ProteomicsDB; 604; -. [A4D161-1]
DR ProteomicsDB; 605; -. [A4D161-2]
DR ProteomicsDB; 606; -. [A4D161-3]
DR TopDownProteomics; A4D161-1; -. [A4D161-1]
DR Antibodypedia; 12123; 40 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 CTD; 340277; -.
DR GeneCards; FAM221A; -.
DR HGNC; HGNC:27977; FAM221A.
DR HPA; ENSG00000188732; Low tissue specificity.
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; ALPCRVK; -.
DR OrthoDB; 973186at2759; -.
DR PhylomeDB; A4D161; -.
DR TreeFam; TF329392; -.
DR PathwayCommons; A4D161; -.
DR SignaLink; A4D161; -.
DR BioGRID-ORCS; 340277; 4 hits in 1075 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 161 other tissues.
DR ExpressionAtlas; A4D161; baseline and differential.
DR Genevisible; A4D161; HS.
DR InterPro; IPR026755; Fam221a/b.
DR PANTHER; PTHR31214; PTHR31214; 1.
DR Pfam; PF14753; FAM221; 1.
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
