FA13B_HUMAN
ID FA13B_HUMAN Reviewed; 915 AA.
AC Q9NYF5; D3DQB5; G3V0H9; Q3ZCR0; Q6PGQ2; Q9P0I7;
DT 11-APR-2003, integrated into UniProtKB/Swiss-Prot.
DT 17-OCT-2006, sequence version 2.
DT 03-AUG-2022, entry version 158.
DE RecName: Full=Protein FAM13B;
DE AltName: Full=GAP-like protein N61;
GN Name=FAM13B; Synonyms=C5orf5, FAM13B1;
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 [MRNA] (ISOFORM 1).
RX PubMed=11087669; DOI=10.1006/geno.2000.6345;
RA Lai F., Godley L.A., Fernald A.A., Orelli B.J., Pamintuan L., Zhao N.,
RA Le Beau M.M.;
RT "cDNA cloning and genomic structure of three genes localized to human
RT chromosome band 5q31 encoding potential nuclear proteins.";
RL Genomics 70:123-130(2000).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15372022; DOI=10.1038/nature02919;
RA Schmutz J., Martin J., Terry A., Couronne O., Grimwood J., Lowry S.,
RA Gordon L.A., Scott D., Xie G., Huang W., Hellsten U., Tran-Gyamfi M.,
RA She X., Prabhakar S., Aerts A., Altherr M., Bajorek E., Black S.,
RA Branscomb E., Caoile C., Challacombe J.F., Chan Y.M., Denys M.,
RA Detter J.C., Escobar J., Flowers D., Fotopulos D., Glavina T., Gomez M.,
RA Gonzales E., Goodstein D., Grigoriev I., Groza M., Hammon N., Hawkins T.,
RA Haydu L., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A.,
RA Lopez F., Lou Y., Martinez D., Medina C., Morgan J., Nandkeshwar R.,
RA Noonan J.P., Pitluck S., Pollard M., Predki P., Priest J., Ramirez L.,
RA Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., Thayer N.,
RA Tice H., Tsai M., Ustaszewska A., Vo N., Wheeler J., Wu K., Yang J.,
RA Dickson M., Cheng J.-F., Eichler E.E., Olsen A., Pennacchio L.A.,
RA Rokhsar D.S., Richardson P., Lucas S.M., Myers R.M., Rubin E.M.;
RT "The DNA sequence and comparative analysis of human chromosome 5.";
RL Nature 431:268-274(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; 2 AND 3).
RC TISSUE=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).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 728-915.
RC TISSUE=Adrenal gland;
RX PubMed=10931946; DOI=10.1073/pnas.160270997;
RA Hu R.-M., Han Z.-G., Song H.-D., Peng Y.-D., Huang Q.-H., Ren S.-X.,
RA Gu Y.-J., Huang C.-H., Li Y.-B., Jiang C.-L., Fu G., Zhang Q.-H., Gu B.-W.,
RA Dai M., Mao Y.-F., Gao G.-F., Rong R., Ye M., Zhou J., Xu S.-H., Gu J.,
RA Shi J.-X., Jin W.-R., Zhang C.-K., Wu T.-M., Huang G.-Y., Chen Z.,
RA Chen M.-D., Chen J.-L.;
RT "Gene expression profiling in the human hypothalamus-pituitary-adrenal axis
RT and full-length cDNA cloning.";
RL Proc. Natl. Acad. Sci. U.S.A. 97:9543-9548(2000).
RN [6]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Erythroleukemia;
RX PubMed=23186163; DOI=10.1021/pr300630k;
RA Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
RA Mohammed S.;
RT "Toward a comprehensive characterization of a human cancer cell
RT phosphoproteome.";
RL J. Proteome Res. 12:260-271(2013).
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q9NYF5-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9NYF5-2; Sequence=VSP_042048;
CC Name=3;
CC IsoId=Q9NYF5-3; Sequence=VSP_044870, VSP_044872, VSP_042048;
CC -!- SIMILARITY: Belongs to the FAM13 family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAF67482.1; Type=Frameshift; Evidence={ECO:0000305};
CC Sequence=AAF67482.1; Type=Miscellaneous discrepancy; Evidence={ECO:0000305};
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DR EMBL; AF251038; AAF63764.1; -; mRNA.
DR EMBL; AC106753; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC113382; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471062; EAW62170.1; -; Genomic_DNA.
DR EMBL; CH471062; EAW62171.1; -; Genomic_DNA.
DR EMBL; CH471062; EAW62172.1; -; Genomic_DNA.
DR EMBL; CH471062; EAW62173.1; -; Genomic_DNA.
DR EMBL; BC041335; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; BC048965; AAH48965.1; -; mRNA.
DR EMBL; BC056887; AAH56887.1; -; mRNA.
DR EMBL; AF157316; AAF67482.1; ALT_SEQ; mRNA.
DR CCDS; CCDS4195.1; -. [Q9NYF5-1]
DR CCDS; CCDS47269.1; -. [Q9NYF5-2]
DR CCDS; CCDS47270.1; -. [Q9NYF5-3]
DR PIR; B59433; B59433.
DR RefSeq; NP_001095270.1; NM_001101800.2. [Q9NYF5-2]
DR RefSeq; NP_001095271.1; NM_001101801.2. [Q9NYF5-3]
DR RefSeq; NP_057687.2; NM_016603.3. [Q9NYF5-1]
DR RefSeq; XP_016865038.1; XM_017009549.1. [Q9NYF5-1]
DR RefSeq; XP_016865039.1; XM_017009550.1. [Q9NYF5-1]
DR AlphaFoldDB; Q9NYF5; -.
DR SMR; Q9NYF5; -.
DR BioGRID; 119457; 32.
DR IntAct; Q9NYF5; 14.
DR MINT; Q9NYF5; -.
DR STRING; 9606.ENSP00000033079; -.
DR iPTMnet; Q9NYF5; -.
DR PhosphoSitePlus; Q9NYF5; -.
DR BioMuta; FAM13B; -.
DR DMDM; 116241292; -.
DR EPD; Q9NYF5; -.
DR jPOST; Q9NYF5; -.
DR MassIVE; Q9NYF5; -.
DR MaxQB; Q9NYF5; -.
DR PaxDb; Q9NYF5; -.
DR PeptideAtlas; Q9NYF5; -.
DR PRIDE; Q9NYF5; -.
DR ProteomicsDB; 32202; -.
DR ProteomicsDB; 83219; -. [Q9NYF5-1]
DR ProteomicsDB; 83220; -. [Q9NYF5-2]
DR Antibodypedia; 26554; 99 antibodies from 17 providers.
DR DNASU; 51306; -.
DR Ensembl; ENST00000033079.7; ENSP00000033079.3; ENSG00000031003.11. [Q9NYF5-1]
DR Ensembl; ENST00000420893.6; ENSP00000388521.2; ENSG00000031003.11. [Q9NYF5-2]
DR Ensembl; ENST00000425075.6; ENSP00000394669.2; ENSG00000031003.11. [Q9NYF5-3]
DR GeneID; 51306; -.
DR KEGG; hsa:51306; -.
DR UCSC; uc003lbz.3; human. [Q9NYF5-1]
DR CTD; 51306; -.
DR DisGeNET; 51306; -.
DR GeneCards; FAM13B; -.
DR HGNC; HGNC:1335; FAM13B.
DR HPA; ENSG00000031003; Low tissue specificity.
DR MIM; 609371; gene.
DR neXtProt; NX_Q9NYF5; -.
DR OpenTargets; ENSG00000031003; -.
DR PharmGKB; PA25916; -.
DR VEuPathDB; HostDB:ENSG00000031003; -.
DR eggNOG; KOG4270; Eukaryota.
DR GeneTree; ENSGT00950000183033; -.
DR HOGENOM; CLU_012606_1_0_1; -.
DR InParanoid; Q9NYF5; -.
DR OMA; SGEQAFH; -.
DR OrthoDB; 1026411at2759; -.
DR PhylomeDB; Q9NYF5; -.
DR TreeFam; TF328895; -.
DR PathwayCommons; Q9NYF5; -.
DR Reactome; R-HSA-9013148; CDC42 GTPase cycle.
DR Reactome; R-HSA-9013149; RAC1 GTPase cycle.
DR SignaLink; Q9NYF5; -.
DR SIGNOR; Q9NYF5; -.
DR BioGRID-ORCS; 51306; 15 hits in 1077 CRISPR screens.
DR ChiTaRS; FAM13B; human.
DR GenomeRNAi; 51306; -.
DR Pharos; Q9NYF5; Tbio.
DR PRO; PR:Q9NYF5; -.
DR Proteomes; UP000005640; Chromosome 5.
DR RNAct; Q9NYF5; protein.
DR Bgee; ENSG00000031003; Expressed in blood vessel layer and 200 other tissues.
DR ExpressionAtlas; Q9NYF5; baseline and differential.
DR Genevisible; Q9NYF5; HS.
DR GO; GO:0005829; C:cytosol; TAS:Reactome.
DR GO; GO:0005096; F:GTPase activator activity; TAS:Reactome.
DR GO; GO:0051056; P:regulation of small GTPase mediated signal transduction; TAS:Reactome.
DR GO; GO:0007165; P:signal transduction; IEA:InterPro.
DR Gene3D; 1.10.555.10; -; 1.
DR InterPro; IPR039102; FAM13.
DR InterPro; IPR008936; Rho_GTPase_activation_prot.
DR InterPro; IPR000198; RhoGAP_dom.
DR PANTHER; PTHR15904; PTHR15904; 1.
DR Pfam; PF00620; RhoGAP; 1.
DR SMART; SM00324; RhoGAP; 1.
DR SUPFAM; SSF48350; SSF48350; 1.
DR PROSITE; PS50238; RHOGAP; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; GTPase activation; Reference proteome.
FT CHAIN 1..915
FT /note="Protein FAM13B"
FT /id="PRO_0000058924"
FT DOMAIN 23..212
FT /note="Rho-GAP"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00172"
FT REGION 487..521
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 621..671
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 633..648
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1..118
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_044870"
FT VAR_SEQ 479
FT /note="W -> WEASCPITFPLIDFKTMHLQRDG (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_044872"
FT VAR_SEQ 699..726
FT /note="Missing (in isoform 2 and isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_042048"
FT VARIANT 802
FT /note="M -> V (in dbSNP:rs33956817)"
FT /id="VAR_049020"
FT CONFLICT 36
FT /note="N -> I (in Ref. 1; AAF63764)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 915 AA; 104543 MW; 8D1F5DE812C47A67 CRC64;
MRKSSSPSLS NCNSVLANKI FGIPLDELQQ GGHPDNEVPF IVRHVVDYIE EHGGLEQQGL
FQVNGNAETV EWLRQRYDSG EEVDLVKEAD VPSAISLLRF FLQELPEPVI PGSLHIHLMQ
LSQDYNNEDE FGRKLRFLLQ QLPPVNYSLL KFLCRFLANV ASHHEEIWSA NSLAAVFGPD
VFHIYTDVED MKEQEIVSRI MAGLLENYYE FFENEEEDFS SNDLSSITEQ VNELSEEEEE
DEKLEHIEEL PEEGAEKSND MPEVVQLRMT ENILESNSVT ATSTHISPIS ILPASTDILE
RTIRAAVEQH LFDLQSSIDH DLKNLQQQSV VCNNEAESIH CDGEGSNNQI DIADDIINAS
ESNRDCSKPV ASTNLDNEAM QQDCVFENEE NTQSVGILLE PCSDRGDSED GCLEREEYLL
FDSDKLSHLI LDSSSKICDL NANTESEVPG GQSVGVQGEA ACVSIPHLDL KNVSDGDKWE
EPFPAFKSWQ EDSESGEAQL SPQAGRMNHH PLEEDCPPVL SHRSLDFGQS QRFLHDPEKL
DSSSKALSFT RIRRSSFSSK DEKREDRTPY QLVKKLQKKI RQFEEQFERE RNSKPSYSDI
AANPKVLKWM TELTKLRKQI KDAKHKNSDG EFVPQTRPRS NTLPKSFGSS LDHEDEENED
EPKVIQKEKK PSKEATLELI LKRLKEKRIE RCLPEDIKKM TKDHLVEEKA SLQKSLLYYE
SQHGRPVTKE ERHIVKPLYD RYRLVKQMLT RASITPVLGS PSTKRRGQML QPIIEGETAH
FFEEIKEEEE DGVNLSSELG DMLKTAVQVQ SSLENSESDV EENQEKLALD LRLSSSRAAS
MPELLEQLWK ARAEKKKLRK TLREFEEAFY QQNGRNAQKE DRVPVLEEYR EYKKIKAKLR
LLEVLISKQD SSKSI
