Sequence information
Variant position: 143 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 666 The length of the canonical sequence.
Location on the sequence:
VGAILAGGLCVGIYATNSAE
V CQYVITHAKVNILLVENDQQ
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human VGAILAGGLCVGIYATNSAEV CQYVITHAKVNILLVENDQQ
Mouse LGTILAGGLCVGIYATNSAEA CQYVIQQANVSILIVENDQQ
Rat LGAILAGGLCVGIYATNSAEA CQYVIKQANVNVLIVENDQQ
Chicken IGAIFAGGLAVGIYTTNSPEA CHYVAENCSANILVVENHTQ
Xenopus laevis VGAIFAGGFAVGIYTTNSAEA CHYVAQNCEANIIVVENQKQ
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Type Positions Description
Chain
1 – 666
Long-chain-fatty-acid--CoA ligase ACSBG2
Alternative sequence
1 – 200
Missing. In isoform 4.
Alternative sequence
1 – 187
Missing. In isoform 3.
Literature citations
Identification and characterization of the BGR-like gene with a potential role in human testicular development/spermatogenesis.
Zheng Y.; Zhou Z.-M.; Min X.; Li J.-M.; Sha J.-H.;
Asian J. Androl. 7:21-32(2005)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3); TISSUE SPECIFICITY; DEVELOPMENTAL STAGE; VARIANT ALA-143; FUNCTION;
A novel mammalian bubblegum-related acyl-CoA synthetase restricted to testes and possibly involved in spermatogenesis.
Fraisl P.; Tanaka H.; Forss-Petter S.; Lassmann H.; Nishimune Y.; Berger J.;
Arch. Biochem. Biophys. 451:23-33(2006)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); SUBCELLULAR LOCATION; TISSUE SPECIFICITY; VARIANT ALA-143; CATALYTIC ACTIVITY; FUNCTION;
Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs.
Wiemann S.; Weil B.; Wellenreuther R.; Gassenhuber J.; Glassl S.; Ansorge W.; Boecher M.; Bloecker H.; Bauersachs S.; Blum H.; Lauber J.; Duesterhoeft A.; Beyer A.; Koehrer K.; Strack N.; Mewes H.-W.; Ottenwaelder B.; Obermaier B.; Tampe J.; Heubner D.; Wambutt R.; Korn B.; Klein M.; Poustka A.;
Genome Res. 11:422-435(2001)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1); VARIANT ALA-143;
The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment.
Clark H.F.; Gurney A.L.; Abaya E.; Baker K.; Baldwin D.T.; Brush J.; Chen J.; Chow B.; Chui C.; Crowley C.; Currell B.; Deuel B.; Dowd P.; Eaton D.; Foster J.S.; Grimaldi C.; Gu Q.; Hass P.E.; Heldens S.; Huang A.; Kim H.S.; Klimowski L.; Jin Y.; Johnson S.; Lee J.; Lewis L.; Liao D.; Mark M.R.; Robbie E.; Sanchez C.; Schoenfeld J.; Seshagiri S.; Simmons L.; Singh J.; Smith V.; Stinson J.; Vagts A.; Vandlen R.L.; Watanabe C.; Wieand D.; Woods K.; Xie M.-H.; Yansura D.G.; Yi S.; Yu G.; Yuan J.; Zhang M.; Zhang Z.; Goddard A.D.; Wood W.I.; Godowski P.J.; Gray A.M.;
Genome Res. 13:2265-2270(2003)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2); VARIANT ALA-143;
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)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1); VARIANTS ALA-143; ASP-584; ASP-586; LYS-624 AND GLN-626;
Disclaimer:
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.