AT7L1_HUMAN
ID AT7L1_HUMAN Reviewed; 861 AA.
AC Q9ULK2; A4D0Q2; B4DTS1; Q8N2T0;
DT 01-DEC-2000, integrated into UniProtKB/Swiss-Prot.
DT 31-MAY-2011, sequence version 3.
DT 03-AUG-2022, entry version 144.
DE RecName: Full=Ataxin-7-like protein 1;
DE AltName: Full=Ataxin-7-like protein 4;
GN Name=ATXN7L1; Synonyms=ATXN7L4, KIAA1218;
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=Placenta;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=12853948; DOI=10.1038/nature01782;
RA Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H.,
RA Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K.,
RA Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A.,
RA Delehaunty K.D., Miner T.L., Nash W.E., Cordes M., Du H., Sun H.,
RA Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A.,
RA Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P.,
RA Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M.,
RA Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S.,
RA Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R.,
RA Strowmatt C., Latreille P., Miller N., Johnson D., Murray J.,
RA Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W.,
RA Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E.,
RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A.,
RA Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E.,
RA Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E.,
RA Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A.,
RA Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A.,
RA Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R.,
RA McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H.,
RA Wilson R.K.;
RT "The DNA sequence of human chromosome 7.";
RL Nature 424:157-164(2003).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Brain;
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 [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=12690205; DOI=10.1126/science.1083423;
RA Scherer S.W., Cheung J., MacDonald J.R., Osborne L.R., Nakabayashi K.,
RA Herbrick J.-A., Carson A.R., Parker-Katiraee L., Skaug J., Khaja R.,
RA Zhang J., Hudek A.K., Li M., Haddad M., Duggan G.E., Fernandez B.A.,
RA Kanematsu E., Gentles S., Christopoulos C.C., Choufani S., Kwasnicka D.,
RA Zheng X.H., Lai Z., Nusskern D.R., Zhang Q., Gu Z., Lu F., Zeesman S.,
RA Nowaczyk M.J., Teshima I., Chitayat D., Shuman C., Weksberg R.,
RA Zackai E.H., Grebe T.A., Cox S.R., Kirkpatrick S.J., Rahman N.,
RA Friedman J.M., Heng H.H.Q., Pelicci P.G., Lo-Coco F., Belloni E.,
RA Shaffer L.G., Pober B., Morton C.C., Gusella J.F., Bruns G.A.P., Korf B.R.,
RA Quade B.J., Ligon A.H., Ferguson H., Higgins A.W., Leach N.T.,
RA Herrick S.R., Lemyre E., Farra C.G., Kim H.-G., Summers A.M., Gripp K.W.,
RA Roberts W., Szatmari P., Winsor E.J.T., Grzeschik K.-H., Teebi A.,
RA Minassian B.A., Kere J., Armengol L., Pujana M.A., Estivill X.,
RA Wilson M.D., Koop B.F., Tosi S., Moore G.E., Boright A.P., Zlotorynski E.,
RA Kerem B., Kroisel P.M., Petek E., Oscier D.G., Mould S.J., Doehner H.,
RA Doehner K., Rommens J.M., Vincent J.B., Venter J.C., Li P.W., Mural R.J.,
RA Adams M.D., Tsui L.-C.;
RT "Human chromosome 7: DNA sequence and biology.";
RL Science 300:767-772(2003).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton 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 (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 24-861 (ISOFORM 1).
RC TISSUE=Brain;
RX PubMed=10574462; DOI=10.1093/dnares/6.5.337;
RA Nagase T., Ishikawa K., Kikuno R., Hirosawa M., Nomura N., Ohara O.;
RT "Prediction of the coding sequences of unidentified human genes. XV. The
RT complete sequences of 100 new cDNA clones from brain which code for large
RT proteins in vitro.";
RL DNA Res. 6:337-345(1999).
CC -!- INTERACTION:
CC Q9ULK2; Q15323: KRT31; NbExp=3; IntAct=EBI-310660, EBI-948001;
CC Q9ULK2; P60411: KRTAP10-9; NbExp=3; IntAct=EBI-310660, EBI-10172052;
CC Q9ULK2; O43189: PHF1; NbExp=3; IntAct=EBI-310660, EBI-530034;
CC Q9ULK2-2; P22607: FGFR3; NbExp=3; IntAct=EBI-21568482, EBI-348399;
CC Q9ULK2-2; P06396: GSN; NbExp=3; IntAct=EBI-21568482, EBI-351506;
CC Q9ULK2-2; Q7Z699: SPRED1; NbExp=3; IntAct=EBI-21568482, EBI-5235340;
CC Q9ULK2-2; Q9Y649; NbExp=3; IntAct=EBI-21568482, EBI-25900580;
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q9ULK2-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9ULK2-2; Sequence=VSP_032351, VSP_032352;
CC Name=3;
CC IsoId=Q9ULK2-3; Sequence=VSP_041344, VSP_041345;
CC -!- SEQUENCE CAUTION:
CC Sequence=BAA86532.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC Sequence=BAA86532.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown origin in the N-terminal part.; Evidence={ECO:0000305};
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DR EMBL; AK300338; BAG62083.1; -; mRNA.
DR EMBL; AC005099; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC007030; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC073073; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH236947; EAL24404.1; -; Genomic_DNA.
DR EMBL; CH471070; EAW83370.1; -; Genomic_DNA.
DR EMBL; BC030616; AAH30616.1; -; mRNA.
DR EMBL; AB033044; BAA86532.1; ALT_SEQ; mRNA.
DR CCDS; CCDS34727.1; -. [Q9ULK2-2]
DR CCDS; CCDS47682.1; -. [Q9ULK2-1]
DR CCDS; CCDS47683.1; -. [Q9ULK2-3]
DR RefSeq; NP_065776.1; NM_020725.1. [Q9ULK2-1]
DR RefSeq; NP_612504.1; NM_138495.1. [Q9ULK2-3]
DR RefSeq; NP_689962.1; NM_152749.3. [Q9ULK2-2]
DR RefSeq; XP_011514242.1; XM_011515940.1. [Q9ULK2-1]
DR RefSeq; XP_011514256.1; XM_011515954.2. [Q9ULK2-2]
DR AlphaFoldDB; Q9ULK2; -.
DR SMR; Q9ULK2; -.
DR BioGRID; 128794; 79.
DR CORUM; Q9ULK2; -.
DR IntAct; Q9ULK2; 25.
DR MINT; Q9ULK2; -.
DR STRING; 9606.ENSP00000410759; -.
DR GlyGen; Q9ULK2; 1 site, 2 O-linked glycans (1 site).
DR iPTMnet; Q9ULK2; -.
DR PhosphoSitePlus; Q9ULK2; -.
DR BioMuta; ATXN7L1; -.
DR DMDM; 334302929; -.
DR EPD; Q9ULK2; -.
DR jPOST; Q9ULK2; -.
DR MassIVE; Q9ULK2; -.
DR MaxQB; Q9ULK2; -.
DR PaxDb; Q9ULK2; -.
DR PeptideAtlas; Q9ULK2; -.
DR PRIDE; Q9ULK2; -.
DR ProteomicsDB; 85054; -. [Q9ULK2-1]
DR ProteomicsDB; 85055; -. [Q9ULK2-2]
DR ProteomicsDB; 85056; -. [Q9ULK2-3]
DR Antibodypedia; 17103; 235 antibodies from 23 providers.
DR DNASU; 222255; -.
DR Ensembl; ENST00000318724.8; ENSP00000326344.4; ENSG00000146776.15. [Q9ULK2-2]
DR Ensembl; ENST00000419735.8; ENSP00000410759.3; ENSG00000146776.15. [Q9ULK2-1]
DR Ensembl; ENST00000477775.5; ENSP00000418476.1; ENSG00000146776.15. [Q9ULK2-3]
DR GeneID; 222255; -.
DR KEGG; hsa:222255; -.
DR MANE-Select; ENST00000419735.8; ENSP00000410759.3; NM_020725.2; NP_065776.1.
DR UCSC; uc003vde.3; human. [Q9ULK2-1]
DR CTD; 222255; -.
DR DisGeNET; 222255; -.
DR GeneCards; ATXN7L1; -.
DR HGNC; HGNC:22210; ATXN7L1.
DR HPA; ENSG00000146776; Low tissue specificity.
DR neXtProt; NX_Q9ULK2; -.
DR OpenTargets; ENSG00000146776; -.
DR PharmGKB; PA134884892; -.
DR VEuPathDB; HostDB:ENSG00000146776; -.
DR eggNOG; KOG4140; Eukaryota.
DR GeneTree; ENSGT00940000158612; -.
DR HOGENOM; CLU_014451_1_0_1; -.
DR InParanoid; Q9ULK2; -.
DR OMA; SIKHMSM; -.
DR OrthoDB; 693000at2759; -.
DR PhylomeDB; Q9ULK2; -.
DR TreeFam; TF331337; -.
DR PathwayCommons; Q9ULK2; -.
DR SignaLink; Q9ULK2; -.
DR BioGRID-ORCS; 222255; 21 hits in 1078 CRISPR screens.
DR ChiTaRS; ATXN7L1; human.
DR GenomeRNAi; 222255; -.
DR Pharos; Q9ULK2; Tdark.
DR PRO; PR:Q9ULK2; -.
DR Proteomes; UP000005640; Chromosome 7.
DR RNAct; Q9ULK2; protein.
DR Bgee; ENSG00000146776; Expressed in right lobe of liver and 152 other tissues.
DR ExpressionAtlas; Q9ULK2; baseline and differential.
DR Genevisible; Q9ULK2; HS.
DR InterPro; IPR013243; SCA7_dom.
DR Pfam; PF08313; SCA7; 1.
DR PROSITE; PS51505; SCA7; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Reference proteome.
FT CHAIN 1..861
FT /note="Ataxin-7-like protein 1"
FT /id="PRO_0000064718"
FT DOMAIN 284..351
FT /note="SCA7"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00838"
FT REGION 1..31
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 154..189
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 342..448
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 606..673
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 772..861
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 154..183
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 342..357
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 358..383
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 397..419
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 624..644
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 645..673
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 814..861
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1..124
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_041344"
FT VAR_SEQ 119..146
FT /note="ERRHGSMCRPSPSPVSPASNPRTSLVQV -> GRKQDNRRNEGISRSGPESS
FT QAIEKHQV (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_032351"
FT VAR_SEQ 147..861
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_032352"
FT VAR_SEQ 849
FT /note="Q -> QK (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_041345"
SQ SEQUENCE 861 AA; 91514 MW; C4A20B5C1EBBEC66 CRC64;
MTSERSRIPC LSAAAAEGTG KKQQEGRAMA TLDRKVPSPE AFLGKPWSSW IDAAKLHCSD
NVDLEEAGKE GGKSREVMRL NKEDMHLFGH YPAHDDFYLV VCSACNQVVK PQVFQSHCER
RHGSMCRPSP SPVSPASNPR TSLVQVKTKA CLSGHHSASS TSKPFKTPKD NLLTSSSKQH
TVFPAKGSRD KPCVPVPVVS LEKIPNLVKA DGANVKMNST TTTAVSASST SSSAVSTPPL
IKPVLMSKSV PPSPEKILNG KGILPTTIDK KHQNGTKNSN KPYRRLSERE FDPNKHCGVL
DPETKKPCTR SLTCKTHSLS HRRAVPGRKK QFDLLLAEHK AKSREKEVKD KEHLLTSTRE
ILPSQSGPAQ DSLLGSSGSS GPEPKVASPA KSRPPNSVLP RPSSANSISS STSSNHSGHT
PEPPLPPVGG DLASRLSSDE GEMDGADESE KLDCQFSTHH PRPLAFCSFG SRLMGRGYYV
FDRRWDRFRF ALNSMVEKHL NSQMWKKIPP AADSPLPSPA AHITTPVPAS VLQPFSNPSA
VYLPSAPISS RLTSSYIMTS AMLSNAAFVT SPDPSALMSH TTAFPHVAAT LSIMDSTFKA
PSAVSPIPAV IPSPSHKPSK TKTSKSSKVK DLSTRSDESP SNKKRKPQSS TSSSSSSSSS
SLQTSLSSPL SGPHKKNCVL NASSALNSYQ AAPPYNSLSV HNSNNGVSPL SAKLEPSGRT
SLPGGPADIV RQVGAVGGSS DSCPLSVPSL ALHAGDLSLA SHNAVSSLPL SFDKSEGKKR
KNSSSSSKAC KITKMPGMNS VHKKNPPSLL APVPDPVNST SSRQVGKNSS LALSQSSPSS
ISSPGHSRQN TNRTGRIRTL P
