Gene
abcd3a
- ID
- ZDB-GENE-040426-2868
- Name
- ATP-binding cassette, sub-family D (ALD), member 3a
- Symbol
- abcd3a Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 24 Mapping Details/Browsers
- Description
- Predicted to enable ATP binding activity; ATPase-coupled transmembrane transporter activity; and long-chain fatty acid transmembrane transporter activity. Predicted to be involved in fatty acid catabolic process; long-chain fatty acid import into peroxisome; and peroxisome organization. Predicted to act upstream of or within transmembrane transport. Predicted to be located in membrane and peroxisome. Predicted to be active in peroxisomal membrane. Human ortholog(s) of this gene implicated in Zellweger syndrome and congenital bile acid synthesis defect 5. Orthologous to human ABCD3 (ATP binding cassette subfamily D member 3).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 2 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:55740 (1 image)
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| sa17682 | Allele with one point mutation | Unknown | Splice Site | ENU |
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No data available
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| congenital bile acid synthesis defect 5 | Alliance | ?Bile acid synthesis defect, congenital, 5 | 616278 |
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Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR017871 | ABC transporter-like, conserved site |
| Domain | IPR003439 | ABC transporter-like, ATP-binding domain |
| Domain | IPR003593 | AAA+ ATPase domain |
| Domain | IPR011527 | ABC transporter type 1, transmembrane domain |
| Family | IPR005283 | Peroxysomal long chain fatty acyl transporter |
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Domain Details Per Protein
| Protein | Additional Resources | Length | AAA+ ATPase domain | ABC transporter-like, ATP-binding domain | ABC transporter-like, conserved site | ABC transporter type 1, transmembrane domain | ABC transporter type 1, transmembrane domain superfamily | ATP-binding cassette sub-family D | Peroxysomal long chain fatty acyl transporter | P-loop containing nucleoside triphosphate hydrolase |
|---|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:Q803I6 | InterPro | 656 | ||||||||
| UniProtKB:A0A8M9PXC6 | InterPro | 656 |
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| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
abcd3a-201
(1)
|
Ensembl | 2,802 nt | ||
| ncRNA |
abcd3a-002
(1)
|
Ensembl | 460 nt |
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Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | CH211-189O17 | ZFIN Curated Data | |
| Encodes | EST | fb59g09 | ||
| Encodes | EST | fd60b04 | ||
| Encodes | cDNA | MGC:55740 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_213482 (1) | 2818 nt | ||
| Genomic | GenBank:CR548632 (1) | 178393 nt | ||
| Polypeptide | UniProtKB:A0A8M9PXC6 (1) | 656 aa |
- Kamoshita, M., Kumar, R., Anteghini, M., Kunze, M., Islinger, M., Martins Dos Santos, V., Schrader, M. (2022) Insights Into the Peroxisomal Protein Inventory of Zebrafish. Frontiers in Physiology. 13:822509
- Yang, G., Sun, S., He, J., Wang, Y., Ren, T., He, H., Gao, J. (2022) Enoyl-CoA hydratase/3-hydroxyacyl-CoA dehydrogenase (ehhadh) is essential for production of DHA in zebrafish. Journal of Lipid Research. 64(3):100326
- Zhu, Z., Liu, Y., Xu, W., Liu, T., Xie, Y., Sham, K.W.Y., Sha, O., Cheng, C.H.K. (2020) Functional Characterization and Expression Analyses Show Differential Roles of Maternal and Zygotic Dgcr8 in Early Embryonic Development. Frontiers in genetics. 11:299
- Foulkes, M.J., Henry, K.M., Rougeot, J., Hooper-Greenhill, E., Loynes, C.A., Jeffrey, P., Fleming, A., Savage, C.O., Meijer, A.H., Jones, S., Renshaw, S.A. (2017) Expression and regulation of drug transporters in vertebrate neutrophils. Scientific Reports. 7:4967
- Ren, J., Chung-Davidson, Y.W., Yeh, C.Y., Scott, C., Brown, T., Li, W. (2015) Genome-wide analysis of the ATP-binding cassette (ABC) transporter gene family in sea lamprey and Japanese lamprey. BMC Genomics. 16:436
- Annilo, T., Chen, Z.Q., Shulenin, S., Costantino, J., Thomas, L., Lou, H., Stefanov, S., and Dean, M. (2006) Evolution of the vertebrate ABC gene family: Analysis of gene birth and death. Genomics. 88(1):1-11
- Dean, M., and Annilo, T. (2005) Evolution of the ATP-Binding Cassette (ABC) Transporter Superfamily in Vertebrates. Annual review of genomics and human genetics. 6:123-142
- Strausberg,R.L., Feingold,E.A., Grouse,L.H., Derge,J.G., Klausner,R.D., Collins,F.S., Wagner,L., Shenmen,C.M., Schuler,G.D., Altschul,S.F., Zeeberg,B., Buetow,K.H., Schaefer,C.F., Bhat,N.K., Hopkins,R.F., Jordan,H., Moore,T., Max,S.I., Wang,J., Hsieh,F., Diatchenko,L., Marusina,K., Farmer,A.A., Rubin,G.M., Hong,L., Stapleton,M., Soares,M.B., Bonaldo,M.F., Casavant,T.L., Scheetz,T.E., Brownstein,M.J., Usdin,T.B., Toshiyuki,S., Carninci,P., Prange,C., Raha,S.S., Loquellano,N.A., Peters,G.J., Abramson,R.D., Mullahy,S.J., Bosak,S.A., McEwan,P.J., McKernan,K.J., Malek,J.A., Gunaratne,P.H., Richards,S., Worley,K.C., Hale,S., Garcia,A.M., Gay,L.J., Hulyk,S.W., Villalon,D.K., Muzny,D.M., Sodergren,E.J., Lu,X., Gibbs,R.A., Fahey,J., Helton,E., Ketteman,M., Madan,A., Rodrigues,S., Sanchez,A., Whiting,M., Madan,A., Young,A.C., Shevchenko,Y., Bouffard,G.G., Blakesley,R.W., Touchman,J.W., Green,E.D., Dickson,M.C., Rodriguez,A.C., Grimwood,J., Schmutz,J., Myers,R.M., Butterfield,Y.S., Krzywinski,M.I., Skalska,U., Smailus,D.E., Schnerch,A., Schein,J.E., Jones,S.J., and Marra,M.A. (2002) Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Proceedings of the National Academy of Sciences of the United States of America. 99(26):16899-903
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