AT7L2_HUMAN
ID AT7L2_HUMAN Reviewed; 722 AA.
AC Q5T6C5;
DT 20-FEB-2007, integrated into UniProtKB/Swiss-Prot.
DT 21-DEC-2004, sequence version 1.
DT 03-AUG-2022, entry version 113.
DE RecName: Full=Ataxin-7-like protein 2;
GN Name=ATXN7L2;
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 PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-575, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma, and 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).
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DR EMBL; AL355145; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR CCDS; CCDS30794.1; -.
DR RefSeq; NP_699171.3; NM_153340.4.
DR AlphaFoldDB; Q5T6C5; -.
DR SMR; Q5T6C5; -.
DR BioGRID; 126028; 55.
DR CORUM; Q5T6C5; -.
DR IntAct; Q5T6C5; 11.
DR MINT; Q5T6C5; -.
DR STRING; 9606.ENSP00000358886; -.
DR iPTMnet; Q5T6C5; -.
DR PhosphoSitePlus; Q5T6C5; -.
DR BioMuta; ATXN7L2; -.
DR DMDM; 74745198; -.
DR EPD; Q5T6C5; -.
DR jPOST; Q5T6C5; -.
DR MassIVE; Q5T6C5; -.
DR MaxQB; Q5T6C5; -.
DR PaxDb; Q5T6C5; -.
DR PeptideAtlas; Q5T6C5; -.
DR PRIDE; Q5T6C5; -.
DR ProteomicsDB; 64577; -.
DR Antibodypedia; 33760; 160 antibodies from 22 providers.
DR DNASU; 127002; -.
DR Ensembl; ENST00000369870.7; ENSP00000358886.3; ENSG00000162650.17.
DR GeneID; 127002; -.
DR KEGG; hsa:127002; -.
DR UCSC; uc001dxr.4; human.
DR CTD; 127002; -.
DR DisGeNET; 127002; -.
DR GeneCards; ATXN7L2; -.
DR HGNC; HGNC:28713; ATXN7L2.
DR HPA; ENSG00000162650; Tissue enhanced (skeletal).
DR neXtProt; NX_Q5T6C5; -.
DR OpenTargets; ENSG00000162650; -.
DR PharmGKB; PA134927530; -.
DR VEuPathDB; HostDB:ENSG00000162650; -.
DR eggNOG; ENOG502QVN4; Eukaryota.
DR GeneTree; ENSGT00940000159736; -.
DR HOGENOM; CLU_019888_1_0_1; -.
DR InParanoid; Q5T6C5; -.
DR OMA; NLCQPGS; -.
DR OrthoDB; 693000at2759; -.
DR PhylomeDB; Q5T6C5; -.
DR TreeFam; TF331337; -.
DR PathwayCommons; Q5T6C5; -.
DR SignaLink; Q5T6C5; -.
DR BioGRID-ORCS; 127002; 16 hits in 1079 CRISPR screens.
DR GenomeRNAi; 127002; -.
DR Pharos; Q5T6C5; Tdark.
DR PRO; PR:Q5T6C5; -.
DR Proteomes; UP000005640; Chromosome 1.
DR RNAct; Q5T6C5; protein.
DR Bgee; ENSG00000162650; Expressed in right hemisphere of cerebellum and 91 other tissues.
DR ExpressionAtlas; Q5T6C5; baseline and differential.
DR Genevisible; Q5T6C5; HS.
DR InterPro; IPR013243; SCA7_dom.
DR Pfam; PF08313; SCA7; 1.
DR PROSITE; PS51505; SCA7; 1.
PE 1: Evidence at protein level;
KW Phosphoprotein; Reference proteome.
FT CHAIN 1..722
FT /note="Ataxin-7-like protein 2"
FT /id="PRO_0000278300"
FT DOMAIN 230..297
FT /note="SCA7"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00838"
FT REGION 106..228
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 288..317
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 347..403
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 531..600
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 149..163
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 288..309
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 531..553
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 557..571
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 575
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT VARIANT 495
FT /note="P -> S (in dbSNP:rs1149172)"
FT /id="VAR_053780"
SQ SEQUENCE 722 AA; 77181 MW; EAEF2D380B475A8D CRC64;
MAVRERAAAA MAALERRVPS LDDFAGQSWS SWVERADLPA ADGAELEESS KNTKKLDAMT
LIKEDMSIFG HCPAHDDFYL VVCNHCSQVV KPQAFQKHCE RRHGPLSKLY GRAPPPPPAP
ASSQKCHVVN GQGPACRAPG STKTSSREKG QGSRSRGHQP PEKTQKDNLC QPGGLTKDSP
GKPPMAPPSK EPPGRENIEI IPSEGSSHWA EGSPPEKEPS GTRLPPKTHR KMARKECDLN
RQCGVINPET KKICTRLLTC KIHSVHQRRE VQGRAKDFDV LVAELKANSR KGESPKEKSP
GRKEQVLERP SQELPSSVQV VAAVAAPSST FSVRAKQTYP YCALPRSRAS SESELDDEGP
CGGDGDPGLF PFPMPRGGTQ ASSEESEEEG TSDDLHPPPD CHYATRPPRP QAFCTFGSRL
VSPGCYVFSR RLDRFCSALS SMLERHLSTH MWKKIPPAAE PPAHLVNSPL SAPLSPSSTG
TCPRLPGPTL RPACPASMPP TKDNLVPSYP AGSPSVAAAC SQAECMGGSQ AITSPLPANT
PSPSFSKLPP SKASKSSKGK DGVEVEAPSR KRKLSPGPTT LKRTCILEPT GKGKPSGCRG
LSAKTKTALS MGLNGTMGPR VKRAGPLDCR GSPHQLPTPV KASQLENRGA AGHPAKALPT
NCLSEEEVAK KRKNLATYCR PVKAKHCQAG APADVACSVR RKKPGPALAF EEKCSTLKSK
AH
