F221B_HUMAN
ID F221B_HUMAN Reviewed; 402 AA.
AC A6H8Z2; Q5TCW2;
DT 13-NOV-2007, integrated into UniProtKB/Swiss-Prot.
DT 23-SEP-2008, sequence version 2.
DT 03-AUG-2022, entry version 98.
DE RecName: Full=Protein FAM221B;
GN Name=FAM221B; Synonyms=C9orf128;
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 3).
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).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15164053; DOI=10.1038/nature02465;
RA Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L.,
RA Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R.,
RA Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S.,
RA Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K.,
RA Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y.,
RA Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C.,
RA Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E.,
RA Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M.,
RA Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J.,
RA Frankish A., Frankland J.A., French L., Fricker D.G., Garner P.,
RA Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S.,
RA Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E.,
RA Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D.,
RA Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E.,
RA Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K.,
RA Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S.,
RA Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J.,
RA Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E.,
RA McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V.,
RA Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S.,
RA Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K.,
RA Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J.,
RA Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M.,
RA West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L.,
RA Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M.,
RA Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J.,
RA Dunham I.;
RT "DNA sequence and analysis of human chromosome 9.";
RL Nature 429:369-374(2004).
RN [3]
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 [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), AND VARIANTS
RP ARG-34 AND GLU-41.
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 A6H8Z2; X5D778: ANKRD11; NbExp=3; IntAct=EBI-12006844, EBI-17183751;
CC A6H8Z2; Q8IYE1: CCDC13; NbExp=3; IntAct=EBI-12006844, EBI-10961312;
CC A6H8Z2; A8MQ03: CYSRT1; NbExp=3; IntAct=EBI-12006844, EBI-3867333;
CC A6H8Z2; Q5JST6: EFHC2; NbExp=3; IntAct=EBI-12006844, EBI-2349927;
CC A6H8Z2; O15499: GSC2; NbExp=3; IntAct=EBI-12006844, EBI-19954058;
CC A6H8Z2; Q5T749: KPRP; NbExp=3; IntAct=EBI-12006844, EBI-10981970;
CC A6H8Z2; Q92764: KRT35; NbExp=3; IntAct=EBI-12006844, EBI-1058674;
CC A6H8Z2; P60410: KRTAP10-8; NbExp=3; IntAct=EBI-12006844, EBI-10171774;
CC A6H8Z2; P52954: LBX1; NbExp=3; IntAct=EBI-12006844, EBI-20141748;
CC A6H8Z2; Q5TA81: LCE2C; NbExp=3; IntAct=EBI-12006844, EBI-11973993;
CC A6H8Z2; Q9BRK4: LZTS2; NbExp=3; IntAct=EBI-12006844, EBI-741037;
CC A6H8Z2; Q9NRY7: PLSCR2; NbExp=3; IntAct=EBI-12006844, EBI-3937430;
CC A6H8Z2; Q86XT4: TRIM50; NbExp=3; IntAct=EBI-12006844, EBI-9867283;
CC A6H8Z2-3; G5E9A7: DMWD; NbExp=3; IntAct=EBI-25843965, EBI-10976677;
CC A6H8Z2-3; P02545: LMNA; NbExp=3; IntAct=EBI-25843965, EBI-351935;
CC A6H8Z2-3; Q7Z699: SPRED1; NbExp=3; IntAct=EBI-25843965, EBI-5235340;
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=A6H8Z2-1; Sequence=Displayed;
CC Name=2;
CC IsoId=A6H8Z2-2; Sequence=VSP_035486, VSP_035487;
CC Name=3;
CC IsoId=A6H8Z2-3; Sequence=VSP_036643, VSP_036644;
CC -!- SIMILARITY: Belongs to the FAM221 family. {ECO:0000305}.
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DR EMBL; BX648702; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; AL133410; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471071; EAW58330.1; -; Genomic_DNA.
DR EMBL; BC146808; AAI46809.1; -; mRNA.
DR EMBL; AI809547; -; NOT_ANNOTATED_CDS; mRNA.
DR CCDS; CCDS43799.2; -. [A6H8Z2-1]
DR RefSeq; NP_001012448.2; NM_001012446.3. [A6H8Z2-1]
DR AlphaFoldDB; A6H8Z2; -.
DR BioGRID; 134170; 24.
DR IntAct; A6H8Z2; 23.
DR STRING; 9606.ENSP00000415299; -.
DR iPTMnet; A6H8Z2; -.
DR PhosphoSitePlus; A6H8Z2; -.
DR BioMuta; FAM221B; -.
DR MassIVE; A6H8Z2; -.
DR PaxDb; A6H8Z2; -.
DR PeptideAtlas; A6H8Z2; -.
DR PRIDE; A6H8Z2; -.
DR ProteomicsDB; 786; -. [A6H8Z2-1]
DR ProteomicsDB; 787; -. [A6H8Z2-2]
DR Antibodypedia; 5672; 40 antibodies from 11 providers.
DR DNASU; 392307; -.
DR Ensembl; ENST00000388950.8; ENSP00000373602.4; ENSG00000204930.10. [A6H8Z2-3]
DR Ensembl; ENST00000423537.7; ENSP00000415299.2; ENSG00000204930.10. [A6H8Z2-1]
DR GeneID; 392307; -.
DR KEGG; hsa:392307; -.
DR MANE-Select; ENST00000423537.7; ENSP00000415299.2; NM_001012446.4; NP_001012448.2.
DR UCSC; uc003zyj.3; human. [A6H8Z2-1]
DR CTD; 392307; -.
DR GeneCards; FAM221B; -.
DR HGNC; HGNC:30762; FAM221B.
DR HPA; ENSG00000204930; Group enriched (bone marrow, testis).
DR neXtProt; NX_A6H8Z2; -.
DR OpenTargets; ENSG00000204930; -.
DR PharmGKB; PA134925958; -.
DR VEuPathDB; HostDB:ENSG00000204930; -.
DR eggNOG; ENOG502R7X0; Eukaryota.
DR GeneTree; ENSGT00770000120611; -.
DR HOGENOM; CLU_053868_0_0_1; -.
DR InParanoid; A6H8Z2; -.
DR OMA; CSCFESN; -.
DR OrthoDB; 973186at2759; -.
DR PhylomeDB; A6H8Z2; -.
DR TreeFam; TF328347; -.
DR PathwayCommons; A6H8Z2; -.
DR SignaLink; A6H8Z2; -.
DR BioGRID-ORCS; 392307; 11 hits in 1067 CRISPR screens.
DR GenomeRNAi; 392307; -.
DR Pharos; A6H8Z2; Tdark.
DR PRO; PR:A6H8Z2; -.
DR Proteomes; UP000005640; Chromosome 9.
DR RNAct; A6H8Z2; protein.
DR Bgee; ENSG00000204930; Expressed in left testis and 70 other tissues.
DR ExpressionAtlas; A6H8Z2; baseline and differential.
DR Genevisible; A6H8Z2; HS.
DR InterPro; IPR026755; Fam221a/b.
DR PANTHER; PTHR31214; PTHR31214; 1.
DR Pfam; PF14753; FAM221; 2.
PE 1: Evidence at protein level;
KW Alternative splicing; Reference proteome.
FT CHAIN 1..402
FT /note="Protein FAM221B"
FT /id="PRO_0000309264"
FT REGION 1..205
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 378..402
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1..35
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 36..94
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 113..167
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 168..185
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1..246
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_035486"
FT VAR_SEQ 247
FT /note="T -> M (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_035487"
FT VAR_SEQ 248..340
FT /note="GLYIGWRCPHYLWDCFRIGDESRCFCGHLLREHRIISDISVPCKVSQCRCFM
FT FCFIPSRPEEVGEFWLKRRATFDPKAWRAQCRCKHSHEEHA -> DRIRNSSSGILAPA
FT HLHCDCLYLALSTKPPWCKGALALQAISIKTEEAKPKATSRQALDPDRLWVSTLAGAAP
FT ITYGTVSGLGMSPDAFVDTC (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:17974005"
FT /id="VSP_036643"
FT VAR_SEQ 341..402
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:17974005"
FT /id="VSP_036644"
FT VARIANT 34
FT /note="H -> R (in dbSNP:rs13294256)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_061598"
FT VARIANT 41
FT /note="K -> E (in dbSNP:rs13294245)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_061599"
SQ SEQUENCE 402 AA; 45394 MW; ED813EC433F169A3 CRC64;
MEAHEIIEEP HITMDAEKHP PSKDPSAEDL QENHISESFL KPSTSETPLE PHTSESPLVP
SPSQIPLEAH SPETHQEPSI SETPSETPTY EASLDSPISV VPEKHLTLPP QSRDYVCLSS
SDTLKEDLSS ESSSNEVPWT RRSTHLSESE SLPEHCLSGP SSQVQVDTTE KQEEEAGEVE
KGVDASDSTA HTAQPGHQLG NTARPVFPAR QTELVEVAKA MHREEFGAQV NNLFQWEKDA
ALNAIQTGLY IGWRCPHYLW DCFRIGDESR CFCGHLLREH RIISDISVPC KVSQCRCFMF
CFIPSRPEEV GEFWLKRRAT FDPKAWRAQC RCKHSHEEHA ATGPHPCRHH GCCCGCFESN
FLCAACDRRW EEHETFFDTQ KTRQRGGRPR GTDTVSNWHR PL
