FA72B_HUMAN
ID FA72B_HUMAN Reviewed; 149 AA.
AC Q86X60; B2RPQ5; Q5QP15;
DT 10-JUN-2008, integrated into UniProtKB/Swiss-Prot.
DT 10-JUN-2008, sequence version 2.
DT 03-AUG-2022, entry version 125.
DE RecName: Full=Protein FAM72B;
GN Name=FAM72B;
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=16710414; DOI=10.1038/nature04727;
RA Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A.,
RA Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C.,
RA Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.,
RA Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C.,
RA Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W.,
RA Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J.,
RA Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J.,
RA Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y.,
RA Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J.,
RA Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H.,
RA Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L.,
RA Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J.,
RA Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S.,
RA Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K.,
RA Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R.,
RA Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M.,
RA Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S.,
RA Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J.,
RA Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W.,
RA McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N.,
RA Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V.,
RA Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J.,
RA Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E.,
RA Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S.,
RA Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M.,
RA White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H.,
RA Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E.,
RA Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G.,
RA Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.;
RT "The DNA sequence and biological annotation of human chromosome 1.";
RL Nature 441:315-321(2006).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
RC TISSUE=Lung, and Skin;
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 Q86X60-2; Q5T749: KPRP; NbExp=3; IntAct=EBI-12886238, EBI-10981970;
CC Q86X60-2; P32242: OTX1; NbExp=3; IntAct=EBI-12886238, EBI-740446;
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q86X60-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q86X60-2; Sequence=VSP_034206;
CC -!- MISCELLANEOUS: Highly homologous to GCUD2 but localized to a distinct
CC locus.
CC -!- SIMILARITY: Belongs to the FAM72 family. {ECO:0000305}.
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DR EMBL; AL357493; CAI14136.1; -; Genomic_DNA.
DR EMBL; AL357493; CAI14137.1; -; Genomic_DNA.
DR EMBL; BC046199; AAH46199.1; -; mRNA.
DR EMBL; BC137546; AAI37547.1; -; mRNA.
DR CCDS; CCDS72848.1; -. [Q86X60-1]
DR CCDS; CCDS81362.1; -. [Q86X60-2]
DR RefSeq; NP_001094380.1; NM_001100910.1. [Q86X60-1]
DR RefSeq; NP_001307078.1; NM_001320149.1. [Q86X60-2]
DR AlphaFoldDB; Q86X60; -.
DR BioGRID; 576100; 2.
DR IntAct; Q86X60; 2.
DR STRING; 9606.ENSP00000358397; -.
DR iPTMnet; Q86X60; -.
DR PhosphoSitePlus; Q86X60; -.
DR BioMuta; FAM72B; -.
DR DMDM; 190359324; -.
DR PaxDb; Q86X60; -.
DR PeptideAtlas; Q86X60; -.
DR PRIDE; Q86X60; -.
DR DNASU; 653820; -.
DR Ensembl; ENST00000355228.8; ENSP00000347368.4; ENSG00000188610.12. [Q86X60-2]
DR Ensembl; ENST00000369390.7; ENSP00000358397.3; ENSG00000188610.12. [Q86X60-1]
DR GeneID; 653820; -.
DR KEGG; hsa:653820; -.
DR MANE-Select; ENST00000369390.7; ENSP00000358397.3; NM_001100910.2; NP_001094380.1.
DR UCSC; uc031upx.2; human. [Q86X60-1]
DR CTD; 653820; -.
DR DisGeNET; 653820; -.
DR GeneCards; FAM72B; -.
DR HGNC; HGNC:24805; FAM72B.
DR HPA; ENSG00000188610; Tissue enhanced (bone marrow, lymphoid tissue).
DR MIM; 614711; gene.
DR neXtProt; NX_Q86X60; -.
DR OpenTargets; ENSG00000188610; -.
DR PharmGKB; PA142671834; -.
DR VEuPathDB; HostDB:ENSG00000188610; -.
DR eggNOG; ENOG502S1HA; Eukaryota.
DR GeneTree; ENSGT00390000005106; -.
DR HOGENOM; CLU_2176611_0_0_1; -.
DR InParanoid; Q86X60; -.
DR OMA; CIDSTEC; -.
DR PhylomeDB; Q86X60; -.
DR TreeFam; TF329231; -.
DR PathwayCommons; Q86X60; -.
DR SignaLink; Q86X60; -.
DR BioGRID-ORCS; 653820; 330 hits in 630 CRISPR screens.
DR ChiTaRS; FAM72B; human.
DR GenomeRNAi; 653820; -.
DR Pharos; Q86X60; Tdark.
DR PRO; PR:Q86X60; -.
DR Proteomes; UP000005640; Chromosome 1.
DR RNAct; Q86X60; protein.
DR Bgee; ENSG00000188610; Expressed in ventricular zone and 99 other tissues.
DR ExpressionAtlas; Q86X60; baseline and differential.
DR Genevisible; Q86X60; HS.
DR GO; GO:0005829; C:cytosol; IDA:HPA.
DR GO; GO:0043231; C:intracellular membrane-bounded organelle; IDA:HPA.
DR InterPro; IPR026768; FAM72.
DR PANTHER; PTHR31841; PTHR31841; 1.
DR Pfam; PF14976; FAM72; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Reference proteome.
FT CHAIN 1..149
FT /note="Protein FAM72B"
FT /id="PRO_0000340258"
FT VAR_SEQ 11..51
FT /note="RCVSILCCKFCKQVLSSRGMKAVLLADTEIDLFSTDIPPTN -> S (in
FT isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_034206"
FT VARIANT 82
FT /note="G -> V (in dbSNP:rs17838150)"
FT /id="VAR_044011"
FT VARIANT 94
FT /note="P -> L (in dbSNP:rs1572701)"
FT /id="VAR_044012"
SQ SEQUENCE 149 AA; 16617 MW; 8755AD90EC029EAE CRC64;
MSTNICSFKD RCVSILCCKF CKQVLSSRGM KAVLLADTEI DLFSTDIPPT NAVDFTGRCY
FTKICKCKLK DIACLKCGNI VGYHVIVPCS SCLPSCNNGH FWMFHSQAVY DINRLDSTGV
NILLWGNLPE IEESTDEDVL NISAEECIR
