ENSG00000117528
Homo sapiens | |
Features
| Gene ID: | ENSG00000117528 | | | | | Biological name : | ABCD3 | | | | | Synonyms : | ABCD3 / ATP binding cassette subfamily D member 3 / P28288 | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 1 | | Strand: | 1 | | Band: | p21.3 | | Gene start: | 94418455 | | Gene end: | 94518666 | | | | | Corresponding Affymetrix probe sets: | 1554878_a_at (Human Genome U133 Plus 2.0 Array) 202850_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000326880
Ensembl peptide - ENSP00000359233
NCBI entrez gene - 5825
See in Manteia.
OMIM - 170995
RefSeq - XM_017001954
RefSeq - NM_001122674
RefSeq - NM_002858
RefSeq - XM_006710802
RefSeq - XM_017001952
RefSeq - XM_017001953
RefSeq Peptide - NP_002849
RefSeq Peptide - NP_001116146
swissprot - P28288
Ensembl - ENSG00000117528
| | | | | Related genetic diseases (OMIM): | 616278 - ?Bile acid synthesis defect, congenital, 5, 616278 |
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed
Ortholog prediction (from Ensembl)
Paralog prediction (from Ensembl)
| ABCD2 / Q9UBJ2 / ATP binding cassette subfamily D member 2 | ENSG00000173208 | 40 | | ABCD1 / P33897 / ATP binding cassette subfamily D member 1 | ENSG00000101986 | 39 | | ABCD4 / O14678 / ATP binding cassette subfamily D member 4 | ENSG00000119688 | 25 |
Protein motifs (from Interpro)
| IPR003439 | ABC transporter-like | | IPR003593 | AAA+ ATPase domain | | IPR005283 | Peroxysomal long chain fatty acyl transporter | | IPR011527 | ABC transporter type 1, transmembrane domain | | IPR017871 | ABC transporter, conserved site | | IPR027417 | P-loop containing nucleoside triphosphate hydrolase | | IPR031241 | ATP-binding cassette sub-family D member 3 | | IPR036640 | ABC transporter type 1, transmembrane domain superfamily |
Gene Ontology (GO)
Pathways (from Reactome)
Phenotype (from MGI, Zfin or HPO)
| HP:0000007 | Autosomal recessive inheritance | "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators] |
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| | HP:0000952 | Jaundice | "Yellow pigmentation of the skin or sclera due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream." [HPO:curators] |
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| | HP:0001395 | Hepatic fibrosis | |
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| | HP:0001399 | Hepatic failure | |
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| | HP:0001744 | Splenomegaly | "An abnormal enlargement of the spleen." [HPO:curators] |
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| | HP:0001891 | Iron deficiency anemia | |
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| | HP:0002240 | Hepatomegaly | "An abnormal enlargment of the liver." [HPO:curators] |
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| | HP:0002910 | Elevated transaminases | "Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage." [HPO:curators] |
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| | HP:0003593 | Early onset | |
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| | HP:0003676 | Progressive disorder | |
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Interacting proteins (from Reactome)
| ENSG00000101986 | ABCD1 / P33897 / ATP binding cassette subfamily D member 1 | / complex | | ENSG00000173208 | ABCD2 / Q9UBJ2 / ATP binding cassette subfamily D member 2 | / complex | | ENSG00000162735 | PEX19 / P40855 / peroxisomal biogenesis factor 19 | / complex | | ENSG00000034693 | PEX3 / P56589 / peroxisomal biogenesis factor 3 | / reaction |
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