ID   A7L3B_HUMAN             Reviewed;          97 AA.
AC   Q96GX2;
DT   23-MAR-2010, integrated into UniProtKB/Swiss-Prot.
DT   23-MAR-2010, sequence version 2.
DT   24-JAN-2024, entry version 114.
DE   RecName: Full=Ataxin-7-like protein 3B;
GN   Name=ATXN7L3B;
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=16541075; DOI=10.1038/nature04569;
RA   Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y.,
RA   Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C.,
RA   Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M., Kovar-Smith C.,
RA   Lewis L.R., Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R.,
RA   Montgomery K.T., Morgan M.B., Nazareth L.V., Scott G., Sodergren E.,
RA   Song X.-Z., Steffen D., Lovering R.C., Wheeler D.A., Worley K.C., Yuan Y.,
RA   Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G.,
RA   Chen Z., Clerc-Blankenburg K.P., Davis C., Delgado O., Dinh H.H.,
RA   Draper H., Gonzalez-Garay M.L., Havlak P., Jackson L.R., Jacob L.S.,
RA   Kelly S.H., Li L., Li Z., Liu J., Liu W., Lu J., Maheshwari M.,
RA   Nguyen B.-V., Okwuonu G.O., Pasternak S., Perez L.M., Plopper F.J.H.,
RA   Santibanez J., Shen H., Tabor P.E., Verduzco D., Waldron L., Wang Q.,
RA   Williams G.A., Zhang J., Zhou J., Allen C.C., Amin A.G., Anyalebechi V.,
RA   Bailey M., Barbaria J.A., Bimage K.E., Bryant N.P., Burch P.E.,
RA   Burkett C.E., Burrell K.L., Calderon E., Cardenas V., Carter K., Casias K.,
RA   Cavazos I., Cavazos S.R., Ceasar H., Chacko J., Chan S.N., Chavez D.,
RA   Christopoulos C., Chu J., Cockrell R., Cox C.D., Dang M., Dathorne S.R.,
RA   David R., Davis C.M., Davy-Carroll L., Deshazo D.R., Donlin J.E.,
RA   D'Souza L., Eaves K.A., Egan A., Emery-Cohen A.J., Escotto M., Flagg N.,
RA   Forbes L.D., Gabisi A.M., Garza M., Hamilton C., Henderson N.,
RA   Hernandez O., Hines S., Hogues M.E., Huang M., Idlebird D.G., Johnson R.,
RA   Jolivet A., Jones S., Kagan R., King L.M., Leal B., Lebow H., Lee S.,
RA   LeVan J.M., Lewis L.C., London P., Lorensuhewa L.M., Loulseged H.,
RA   Lovett D.A., Lucier A., Lucier R.L., Ma J., Madu R.C., Mapua P.,
RA   Martindale A.D., Martinez E., Massey E., Mawhiney S., Meador M.G.,
RA   Mendez S., Mercado C., Mercado I.C., Merritt C.E., Miner Z.L., Minja E.,
RA   Mitchell T., Mohabbat F., Mohabbat K., Montgomery B., Moore N., Morris S.,
RA   Munidasa M., Ngo R.N., Nguyen N.B., Nickerson E., Nwaokelemeh O.O.,
RA   Nwokenkwo S., Obregon M., Oguh M., Oragunye N., Oviedo R.J., Parish B.J.,
RA   Parker D.N., Parrish J., Parks K.L., Paul H.A., Payton B.A., Perez A.,
RA   Perrin W., Pickens A., Primus E.L., Pu L.-L., Puazo M., Quiles M.M.,
RA   Quiroz J.B., Rabata D., Reeves K., Ruiz S.J., Shao H., Sisson I.,
RA   Sonaike T., Sorelle R.P., Sutton A.E., Svatek A.F., Svetz L.A.,
RA   Tamerisa K.S., Taylor T.R., Teague B., Thomas N., Thorn R.D., Trejos Z.Y.,
RA   Trevino B.K., Ukegbu O.N., Urban J.B., Vasquez L.I., Vera V.A.,
RA   Villasana D.M., Wang L., Ward-Moore S., Warren J.T., Wei X., White F.,
RA   Williamson A.L., Wleczyk R., Wooden H.S., Wooden S.H., Yen J., Yoon L.,
RA   Yoon V., Zorrilla S.E., Nelson D., Kucherlapati R., Weinstock G.,
RA   Gibbs R.A.;
RT   "The finished DNA sequence of human chromosome 12.";
RL   Nature 440:346-351(2006).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC   TISSUE=Cervix;
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   [3]
RP   IDENTIFICATION.
RX   PubMed=16680195; DOI=10.1371/journal.pcbi.0020046;
RA   Svensson O., Arvestad L., Lagergren J.;
RT   "Genome-wide survey for biologically functional pseudogenes.";
RL   PLoS Comput. Biol. 2:E46-E46(2006).
RN   [4]
RP   CHROMOSOMAL REARRANGEMENT.
RX   PubMed=23475819; DOI=10.1136/jnnp-2012-304555;
RA   Rajakulendran S., Roberts J., Koltzenburg M., Hanna M.G., Stewart H.;
RT   "Deletion of chromosome 12q21 affecting KCNC2 and ATXN7L3B in a family with
RT   neurodevelopmental delay and ataxia.";
RL   J. Neurol. Neurosurg. Psych. 84:1255-1257(2013).
RN   [5]
RP   FUNCTION, INTERACTION WITH ENY2 AND USP22, AND SUBCELLULAR LOCATION.
RX   PubMed=27601583; DOI=10.1128/mcb.00193-16;
RA   Li W., Atanassov B.S., Lan X., Mohan R.D., Swanson S.K., Farria A.T.,
RA   Florens L., Washburn M.P., Workman J.L., Dent S.Y.;
RT   "Cytoplasmic ATXN7L3B interferes with nuclear functions of the SAGA
RT   deubiquitinase module.";
RL   Mol. Cell. Biol. 36:2855-2866(2016).
CC   -!- FUNCTION: By binding to ENY2, interferes with the nuclear functions of
CC       the deubiquitinase (DUB) module of the SAGA complex which consists of
CC       ENY2, ATXN7, ATXN7L3 and the histone deubiquitinating component USP22.
CC       Affects USP22 DUB activity toward histones indirectly by changing the
CC       subcellular distribution of ENY2 and altering ENY2 availability for
CC       ATXN7L3 interaction. Regulates H2B monoubiquitination (H2Bub1) levels
CC       through cytoplasmic sequestration of ENY2 resulting in loss of nuclear
CC       ENY2-ATXN7L3 association which destabilizes ATXN7L3. Affects protein
CC       expression levels of ENY2 and ATXN7L3. {ECO:0000269|PubMed:27601583}.
CC   -!- SUBUNIT: Interacts strongly with ENY2. Interacts weakly with USP22.
CC       {ECO:0000269|PubMed:27601583}.
CC   -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:27601583}.
CC   -!- DISEASE: Note=A chromosomal aberration involving ATXN7L3B has been
CC       found in a mother and her two children with varying degrees of
CC       neurodevelopmental delay and cerebellar ataxia. One child also exhibits
CC       episodes of unresponsiveness suggestive of absence seizures and facial
CC       dysmorphism. Deletion at 12q21.1 deletes the entire single exon of
CC       ATXN7L3B. {ECO:0000269|PubMed:23475819}.
CC   -!- MISCELLANEOUS: Encoded by an expressed retrotransposed copy of the
CC       ATXN7L3 locus that emerged prior to the speciation event separating
CC       primates and rodents.
CC   -!- SIMILARITY: Belongs to the SGF11 family. {ECO:0000305}.
CC   -!- SEQUENCE CAUTION:
CC       Sequence=AAH09111.1; Type=Erroneous translation; Note=Wrong choice of CDS.; Evidence={ECO:0000305};
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DR   EMBL; AC025257; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; BC009111; AAH09111.1; ALT_SEQ; mRNA.
DR   CCDS; CCDS53815.1; -.
DR   RefSeq; NP_001129734.1; NM_001136262.1.
DR   AlphaFoldDB; Q96GX2; -.
DR   BioGRID; 139266; 13.
DR   IntAct; Q96GX2; 2.
DR   STRING; 9606.ENSP00000430000; -.
DR   GlyGen; Q96GX2; 1 site, 1 O-linked glycan (1 site).
DR   iPTMnet; Q96GX2; -.
DR   PhosphoSitePlus; Q96GX2; -.
DR   BioMuta; ATXN7L3B; -.
DR   EPD; Q96GX2; -.
DR   jPOST; Q96GX2; -.
DR   MassIVE; Q96GX2; -.
DR   MaxQB; Q96GX2; -.
DR   PaxDb; 9606-ENSP00000430000; -.
DR   PeptideAtlas; Q96GX2; -.
DR   ProteomicsDB; 76676; -.
DR   Pumba; Q96GX2; -.
DR   Antibodypedia; 52794; 70 antibodies from 12 providers.
DR   DNASU; 552889; -.
DR   Ensembl; ENST00000519948.4; ENSP00000430000.2; ENSG00000253719.4.
DR   GeneID; 552889; -.
DR   KEGG; hsa:552889; -.
DR   MANE-Select; ENST00000519948.4; ENSP00000430000.2; NM_001136262.2; NP_001129734.1.
DR   UCSC; uc001sxd.5; human.
DR   AGR; HGNC:37931; -.
DR   CTD; 552889; -.
DR   DisGeNET; 552889; -.
DR   GeneCards; ATXN7L3B; -.
DR   HGNC; HGNC:37931; ATXN7L3B.
DR   HPA; ENSG00000253719; Low tissue specificity.
DR   MIM; 615579; gene.
DR   neXtProt; NX_Q96GX2; -.
DR   OpenTargets; ENSG00000253719; -.
DR   PharmGKB; PA165512339; -.
DR   VEuPathDB; HostDB:ENSG00000253719; -.
DR   eggNOG; ENOG502TFV2; Eukaryota.
DR   GeneTree; ENSGT00940000162576; -.
DR   HOGENOM; CLU_2359075_0_0_1; -.
DR   InParanoid; Q96GX2; -.
DR   OMA; GPDQELQ; -.
DR   OrthoDB; 5404108at2759; -.
DR   PhylomeDB; Q96GX2; -.
DR   TreeFam; TF353123; -.
DR   PathwayCommons; Q96GX2; -.
DR   SignaLink; Q96GX2; -.
DR   BioGRID-ORCS; 552889; 11 hits in 1143 CRISPR screens.
DR   ChiTaRS; ATXN7L3B; human.
DR   GenomeRNAi; 552889; -.
DR   Pharos; Q96GX2; Tdark.
DR   PRO; PR:Q96GX2; -.
DR   Proteomes; UP000005640; Chromosome 12.
DR   RNAct; Q96GX2; Protein.
DR   Bgee; ENSG00000253719; Expressed in postcentral gyrus and 218 other cell types or tissues.
DR   GO; GO:0005737; C:cytoplasm; IDA:UniProtKB.
DR   GO; GO:0010468; P:regulation of gene expression; IEP:UniProtKB.
DR   InterPro; IPR042933; ATXN7L3B.
DR   PANTHER; PTHR47733; ATAXIN-7 LIKE PROTEIN 3B, ATXN7L3B; 1.
DR   PANTHER; PTHR47733:SF1; ATAXIN-7-LIKE PROTEIN 3B; 1.
DR   Genevisible; Q96GX2; HS.
PE   1: Evidence at protein level;
KW   Chromosomal rearrangement; Cytoplasm; Phosphoprotein; Reference proteome.
FT   CHAIN           1..97
FT                   /note="Ataxin-7-like protein 3B"
FT                   /id="PRO_0000392529"
FT   REGION          77..97
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        83..97
FT                   /note="Polar residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   MOD_RES         92
FT                   /note="Phosphoserine"
FT                   /evidence="ECO:0000250|UniProtKB:Q3UD01"
SQ   SEQUENCE   97 AA;  10771 MW;  722ADB410FCEFC9A CRC64;
     MEEISLANLD TNKLEAIAQE IYVDLIEDSC LGFCFEVHRA VKCGYFYLEF AETGSVKDFG
     IQPVEDKGAC RLPLCSLPGE PGNGPDQQLQ RSPPEFQ
//