Q96MZ0 (GD1L1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Ganglioside-induced differentiation-associated protein 1-like 1
Short name=GDAP1-L1

Gene names

Name:

GDAP1L1

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	367 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Sequence similarities

Belongs to the GST superfamily. Contains 1 GST C-terminal domain. Contains 1 GST N-terminal domain.

Ontologies

Keywords
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Coiled coil
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
None. [Check GOA]

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q96MZ0-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Isoform 2 (identifier: Q96MZ0-2)

The sequence of this isoform differs from the canonical sequence as follows:
     125-147: EHVVALMPEVGSLQHARVLQYRE → GPRLAASLELRGANPRGQLGRAQ
     148-367: Missing.

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 367	367	Ganglioside-induced differentiation-associated protein 1-like 1		PRO_0000186040
Regions
	Domain	45 – 126	82	GST N-terminal
	Domain	174 – 341	168	GST C-terminal
Natural variations
	Alternative sequence	125 – 147	23	EHVVA…LQYRE → GPRLAASLELRGANPRGQLG RAQ in isoform 2.		VSP_008793
	Alternative sequence	148 – 367	220	Missing in isoform 2.		VSP_008794
	Natural variant	141	1	R → W in a colorectal cancer sample; somatic mutation. Ref.6		VAR_036556
Experimental info
	Sequence conflict	11	1	N → S in BAB71128. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified November 7, 2003. Version 2. Checksum: E8721C78663751B8	FASTA	367	41,973
	10 20 30 40 50 60 MATPNNLTPT NCSWWPISAL ESDAAKPAEA PDAPEAASPA HWPRESLVLY HWTQSFSSQK 70 80 90 100 110 120 VRLVIAEKGL VCEERDVSLP QSEHKEPWFM RLNLGEEVPV IIHRDNIISD YDQIIDYVER 130 140 150 160 170 180 TFTGEHVVAL MPEVGSLQHA RVLQYRELLD ALPMDAYTHG CILHPELTTD SMIPKYATAE 190 200 210 220 230 240 IRRHLANATT DLMKLDHEEE PQLSEPYLSK QKKLMAKILE HDDVSYLKKI LGELAMVLDQ 250 260 270 280 290 300 IEAELEKRKL ENEGQKCELW LCGCAFTLAD VLLGATLHRL KFLGLSKKYW EDGSRPNLQS 310 320 330 340 350 360 FFERVQRRFA FRKVLGDIHT TLLSAVIPNA FRLVKRKPPS FFGASFLMGS LGGMGYFAYW YLKKKYI
	Isoform 2 [UniParc]. Checksum: ECA51DA58702F807	FASTA	147	16,459
	10 20 30 40 50 60 MATPNNLTPT NCSWWPISAL ESDAAKPAEA PDAPEAASPA HWPRESLVLY HWTQSFSSQK 70 80 90 100 110 120 VRLVIAEKGL VCEERDVSLP QSEHKEPWFM RLNLGEEVPV IIHRDNIISD YDQIIDYVER 130 140 TFTGGPRLAA SLELRGANPR GQLGRAQ

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"A novel human carcinoma-associated gene." Chen J.X., Ying K., Xie Y., Mao Y.M. Submitted (JUN-2000) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[2]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
[3]	"The DNA sequence and comparative analysis of human chromosome 20." Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R., Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L., Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M., Beasley O.P., Bird C.P., Blakey S.E. , Bridgeman A.M., Brown A.J., Buck D., Burrill W.D., Butler A.P., Carder C., Carter N.P., Chapman J.C., Clamp M., Clark G., Clark L.N., Clark S.Y., Clee C.M., Clegg S., Cobley V.E., Collier R.E., Connor R.E., Corby N.R., Coulson A., Coville G.J., Deadman R., Dhami P.D., Dunn M., Ellington A.G., Frankland J.A., Fraser A., French L., Garner P., Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E., Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J., Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D., Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S., Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D., Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A., Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T., Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I., Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H., Rice C.M., Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S., Skuce C.D., Smith M.L., Soderlund C., Steward C.A., Sulston J.E., Swann R.M., Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A., Tracey A., Tromans A.C., Vaudin M., Wall M., Wallis J.M., Whitehead S.L., Whittaker P., Willey D.L., Williams L., Williams S.A., Wilming L., Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S., Rogers J. Nature 414:865-871(2001) [PubMed: 11780052] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Brain and Eye.
[5]	"The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed: 17974005] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 213-367 (ISOFORM 1). Tissue: Amygdala.
[6]	"The consensus coding sequences of human breast and colorectal cancers." Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E. Science 314:268-274(2006) [PubMed: 16959974] [Abstract] Cited for: VARIANT [LARGE SCALE ANALYSIS] TRP-141.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF277566 mRNA. Translation: AAM73515.1. AK056251 mRNA. Translation: BAB71128.1. AL035462 Genomic DNA. Translation: CAC36290.1. AL117382, AL035462 Genomic DNA. Translation: CAI23110.1. AL035462, AL117382 Genomic DNA. Translation: CAI23551.1. BC000199 mRNA. Translation: AAH00199.1. BC009014 mRNA. Translation: AAH09014.1. CR749676 mRNA. Translation: CAH18467.1.
IPI	IPI00028723. IPI00306658.
RefSeq	NP_076939.3. NM_024034.3.
UniGene	Hs.517059.
3D structure databases
ProteinModelPortal	Q96MZ0.
SMR	Q96MZ0. Positions 47-318.
ModBase	Search...
Protein-protein interaction databases
STRING	Q96MZ0.
PTM databases
PhosphoSite	Q96MZ0.
Polymorphism databases
DMDM	38257738.
Proteomic databases
PRIDE	Q96MZ0.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000342560; ENSP00000341782; ENSG00000124194.
GeneID	78997.
KEGG	hsa:78997.
UCSC	uc002xlq.1. human.
Organism-specific databases
CTD	78997.
GeneCards	GC20P042875.
H-InvDB	HIX0015835.
HGNC	HGNC:4213. GDAP1L1.
neXtProt	NX_Q96MZ0.
PharmGKB	PA28627.
GenAtlas	Search...
Phylogenomic databases
GeneTree	ENSGT00510000046788.
HOVERGEN	HBG051717.
InParanoid	Q96MZ0.
OMA	RLVLYHW.
OrthoDB	EOG4G7BZN.
PhylomeDB	Q96MZ0.
Gene expression databases
ArrayExpress	Q96MZ0.
Bgee	Q96MZ0.
CleanEx	HS_GDAP1L1.
Genevestigator	Q96MZ0.
GermOnline	ENSG00000124194. Homo sapiens.
Family and domain databases
InterPro	IPR010987. Glutathione-S-Trfase_C-like. IPR004045. Glutathione_S-Trfase_N. IPR017933. Glutathione_S_Trfase/Cl_chnl_C. IPR004046. GST_C. IPR012336. Thioredoxin-like_fold. [Graphical view]
Gene3D	G3DSA:1.20.1050.10. GST_C_like. 1 hit. G3DSA:3.40.30.10. Thioredoxin_fold. 1 hit.
Pfam	PF00043. GST_C. 1 hit. PF02798. GST_N. 1 hit. [Graphical view]
SUPFAM	SSF47616. GST_C_like. 1 hit. SSF52833. Thiordxn-like_fd. 1 hit.
PROSITE	PS50405. GST_CTER. 1 hit. PS50404. GST_NTER. 1 hit. [Graphical view]
ProtoNet	Search...
Other
NextBio	67599.

Entry information

Entry name

GD1L1_HUMAN

Accession

Primary (citable) accession number: Q96MZ0
Secondary accession number(s): Q5TE60 , Q68CW7, Q9BQJ7, Q9BQV4, Q9BWJ4, Q9H3Y2, Q9H4G5

Entry history

Integrated into UniProtKB/Swiss-Prot:	November 7, 2003
Last sequence update:	November 7, 2003
Last modified:	January 25, 2012
This is version 79 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.