GD1L1_HUMAN
ID GD1L1_HUMAN Reviewed; 367 AA.
AC Q96MZ0; B7Z621; Q5TE60; Q68CW7; Q9BQJ7; Q9BQV4; Q9BWJ4; Q9H3Y2; Q9H4G5;
DT 07-NOV-2003, integrated into UniProtKB/Swiss-Prot.
DT 07-NOV-2003, sequence version 2.
DT 03-AUG-2022, entry version 151.
DE RecName: Full=Ganglioside-induced differentiation-associated protein 1-like 1;
DE Short=GDAP1-L1;
GN Name=GDAP1L1;
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).
RA Chen J.X., Ying K., Xie Y., Mao Y.M.;
RT "A novel human carcinoma-associated gene.";
RL Submitted (JUN-2000) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 3).
RC TISSUE=Brain;
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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=11780052; DOI=10.1038/414865a;
RA Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R.,
RA Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L.,
RA Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M., Beasley O.P.,
RA Bird C.P., Blakey S.E., Bridgeman A.M., Brown A.J., Buck D., Burrill W.D.,
RA Butler A.P., Carder C., Carter N.P., Chapman J.C., Clamp M., Clark G.,
RA Clark L.N., Clark S.Y., Clee C.M., Clegg S., Cobley V.E., Collier R.E.,
RA Connor R.E., Corby N.R., Coulson A., Coville G.J., Deadman R., Dhami P.D.,
RA Dunn M., Ellington A.G., Frankland J.A., Fraser A., French L., Garner P.,
RA Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E.,
RA Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J.,
RA Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D.,
RA Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S.,
RA Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D.,
RA Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A.,
RA Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T.,
RA Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I.,
RA Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H., Rice C.M.,
RA Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S., Skuce C.D.,
RA Smith M.L., Soderlund C., Steward C.A., Sulston J.E., Swann R.M.,
RA Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A., Tracey A.,
RA Tromans A.C., Vaudin M., Wall M., Wallis J.M., Whitehead S.L.,
RA Whittaker P., Willey D.L., Williams L., Williams S.A., Wilming L.,
RA Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S., Rogers J.;
RT "The DNA sequence and comparative analysis of human chromosome 20.";
RL Nature 414:865-871(2001).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Brain, and Eye;
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 213-367 (ISOFORM 1).
RC TISSUE=Amygdala;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [6]
RP VARIANT [LARGE SCALE ANALYSIS] TRP-141.
RX PubMed=16959974; DOI=10.1126/science.1133427;
RA Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D.,
RA Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P.,
RA Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V.,
RA Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H.,
RA Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W.,
RA Velculescu V.E.;
RT "The consensus coding sequences of human breast and colorectal cancers.";
RL Science 314:268-274(2006).
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q96MZ0-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q96MZ0-2; Sequence=VSP_008793, VSP_008794;
CC Name=3;
CC IsoId=Q96MZ0-4; Sequence=VSP_053683;
CC -!- SIMILARITY: Belongs to the GST superfamily. {ECO:0000305}.
CC -!- CAUTION: While belonging to the GST superfamily, it probably lacks
CC glutathione transferase activity. {ECO:0000305}.
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DR EMBL; AF277566; AAM73515.1; -; mRNA.
DR EMBL; AK056251; BAB71128.1; -; mRNA.
DR EMBL; AK299700; BAH13107.1; -; mRNA.
DR EMBL; AL035462; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL117382; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC000199; AAH00199.1; -; mRNA.
DR EMBL; BC009014; AAH09014.1; -; mRNA.
DR EMBL; CR749676; CAH18467.1; -; mRNA.
DR CCDS; CCDS13328.1; -. [Q96MZ0-1]
DR CCDS; CCDS74725.1; -. [Q96MZ0-4]
DR RefSeq; NP_001243666.1; NM_001256737.1. [Q96MZ0-4]
DR RefSeq; NP_001243667.1; NM_001256738.1.
DR RefSeq; NP_001243668.1; NM_001256739.1.
DR RefSeq; NP_001243669.1; NM_001256740.1.
DR RefSeq; NP_076939.3; NM_024034.4. [Q96MZ0-1]
DR AlphaFoldDB; Q96MZ0; -.
DR SASBDB; Q96MZ0; -.
DR SMR; Q96MZ0; -.
DR BioGRID; 122468; 1.
DR STRING; 9606.ENSP00000440498; -.
DR iPTMnet; Q96MZ0; -.
DR PhosphoSitePlus; Q96MZ0; -.
DR BioMuta; GDAP1L1; -.
DR DMDM; 38257738; -.
DR EPD; Q96MZ0; -.
DR jPOST; Q96MZ0; -.
DR MassIVE; Q96MZ0; -.
DR PaxDb; Q96MZ0; -.
DR PeptideAtlas; Q96MZ0; -.
DR PRIDE; Q96MZ0; -.
DR ProteomicsDB; 77433; -. [Q96MZ0-1]
DR ProteomicsDB; 77434; -. [Q96MZ0-2]
DR Antibodypedia; 27351; 159 antibodies from 19 providers.
DR DNASU; 78997; -.
DR Ensembl; ENST00000342560.10; ENSP00000341782.5; ENSG00000124194.17. [Q96MZ0-1]
DR Ensembl; ENST00000372952.7; ENSP00000362043.3; ENSG00000124194.17. [Q96MZ0-2]
DR Ensembl; ENST00000537864.5; ENSP00000440498.2; ENSG00000124194.17. [Q96MZ0-4]
DR GeneID; 78997; -.
DR KEGG; hsa:78997; -.
DR MANE-Select; ENST00000342560.10; ENSP00000341782.5; NM_024034.6; NP_076939.3.
DR UCSC; uc002xlq.5; human. [Q96MZ0-1]
DR CTD; 78997; -.
DR DisGeNET; 78997; -.
DR GeneCards; GDAP1L1; -.
DR HGNC; HGNC:4213; GDAP1L1.
DR HPA; ENSG00000124194; Group enriched (brain, pituitary gland).
DR neXtProt; NX_Q96MZ0; -.
DR OpenTargets; ENSG00000124194; -.
DR PharmGKB; PA28627; -.
DR VEuPathDB; HostDB:ENSG00000124194; -.
DR eggNOG; KOG4420; Eukaryota.
DR GeneTree; ENSGT00940000160178; -.
DR HOGENOM; CLU_049129_1_0_1; -.
DR InParanoid; Q96MZ0; -.
DR OMA; MKLDHDE; -.
DR OrthoDB; 1283865at2759; -.
DR PhylomeDB; Q96MZ0; -.
DR TreeFam; TF327072; -.
DR PathwayCommons; Q96MZ0; -.
DR BioGRID-ORCS; 78997; 7 hits in 1066 CRISPR screens.
DR ChiTaRS; GDAP1L1; human.
DR GenomeRNAi; 78997; -.
DR Pharos; Q96MZ0; Tdark.
DR PRO; PR:Q96MZ0; -.
DR Proteomes; UP000005640; Chromosome 20.
DR RNAct; Q96MZ0; protein.
DR Bgee; ENSG00000124194; Expressed in cortical plate and 122 other tissues.
DR ExpressionAtlas; Q96MZ0; baseline and differential.
DR Genevisible; Q96MZ0; HS.
DR GO; GO:0005737; C:cytoplasm; IEA:UniProt.
DR GO; GO:0006749; P:glutathione metabolic process; IEA:InterPro.
DR InterPro; IPR034336; GDAP1.
DR InterPro; IPR010987; Glutathione-S-Trfase_C-like.
DR InterPro; IPR036282; Glutathione-S-Trfase_C_sf.
DR InterPro; IPR004045; Glutathione_S-Trfase_N.
DR InterPro; IPR036249; Thioredoxin-like_sf.
DR PANTHER; PTHR44188:SF2; PTHR44188:SF2; 1.
DR Pfam; PF13417; GST_N_3; 1.
DR SUPFAM; SSF47616; SSF47616; 1.
DR SUPFAM; SSF52833; SSF52833; 1.
DR PROSITE; PS50405; GST_CTER; 1.
DR PROSITE; PS50404; GST_NTER; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Coiled coil; Reference proteome.
FT CHAIN 1..367
FT /note="Ganglioside-induced differentiation-associated
FT protein 1-like 1"
FT /id="PRO_0000186040"
FT DOMAIN 45..126
FT /note="GST N-terminal"
FT DOMAIN 174..341
FT /note="GST C-terminal"
FT VAR_SEQ 124
FT /note="G -> GGGRGRCPSGFPAQPLAVPT (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_053683"
FT VAR_SEQ 125..147
FT /note="EHVVALMPEVGSLQHARVLQYRE -> GPRLAASLELRGANPRGQLGRAQ
FT (in isoform 2)"
FT /evidence="ECO:0000305"
FT /id="VSP_008793"
FT VAR_SEQ 148..367
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000305"
FT /id="VSP_008794"
FT VARIANT 141
FT /note="R -> W (in a colorectal cancer sample; somatic
FT mutation; dbSNP:rs754794599)"
FT /evidence="ECO:0000269|PubMed:16959974"
FT /id="VAR_036556"
FT CONFLICT 11
FT /note="N -> S (in Ref. 2; BAB71128)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 367 AA; 41973 MW; E8721C78663751B8 CRC64;
MATPNNLTPT NCSWWPISAL ESDAAKPAEA PDAPEAASPA HWPRESLVLY HWTQSFSSQK
VRLVIAEKGL VCEERDVSLP QSEHKEPWFM RLNLGEEVPV IIHRDNIISD YDQIIDYVER
TFTGEHVVAL MPEVGSLQHA RVLQYRELLD ALPMDAYTHG CILHPELTTD SMIPKYATAE
IRRHLANATT DLMKLDHEEE PQLSEPYLSK QKKLMAKILE HDDVSYLKKI LGELAMVLDQ
IEAELEKRKL ENEGQKCELW LCGCAFTLAD VLLGATLHRL KFLGLSKKYW EDGSRPNLQS
FFERVQRRFA FRKVLGDIHT TLLSAVIPNA FRLVKRKPPS FFGASFLMGS LGGMGYFAYW
YLKKKYI
