Gene
slc19a3b
- ID
- ZDB-GENE-050419-166
- Name
- solute carrier family 19 member 3b
- Symbol
- slc19a3b Nomenclature History
- Previous Names
-
- slc19a3
- si:dkey-223n17.4
- Type
- protein_coding_gene
- Location
- Chr: 18 Mapping Details/Browsers
- Description
- Predicted to enable vitamin transmembrane transporter activity. Predicted to be involved in transmembrane transport. Predicted to act upstream of or within vitamin transport. Predicted to be located in membrane. Predicted to be active in plasma membrane. Human ortholog(s) of this gene implicated in biotin-responsive basal ganglia disease. Orthologous to human SLC19A3 (solute carrier family 19 member 3).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- No data available
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| sa39220 | Allele with one point mutation | Unknown | Premature Stop | ENU |
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No data available
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| biotin-responsive basal ganglia disease | Alliance | Thiamine metabolism dysfunction syndrome 2 (biotin/thiamine-responsive basal ganglia disease type) | 607483 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | MFS transporter superfamily | Reduced folate carrier |
|---|---|---|---|
|
UniProtKB:Q1LV16
|
474 | ||
|
UniProtKB:A0A8M2B5S9
|
498 |
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| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
slc19a3b-201
(1)
|
Ensembl | 1,629 nt | ||
| mRNA |
slc19a3b-202
(1)
|
Ensembl | 1,425 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 | DKEY-223N17 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:198134 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001044707 (1) | 1425 nt | ||
| Genomic | GenBank:BX908751 (1) | 157961 nt | ||
| Polypeptide | UniProtKB:A0A8M2B5S9 (1) | 498 aa |
- Hsieh, F.Y., Ma, T.L., Shih, H.Y., Lin, S.J., Huang, C.W., Wang, H.Y., and Cheng, Y.C. (2013) Dner inhibits neural progenitor proliferation and induces neuronal and glial differentiation in zebrafish. Developmental Biology. 375(1):1-12
- 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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