Gene
ldlrap1a
- ID
- ZDB-GENE-030328-13
- Name
- low density lipoprotein receptor adaptor protein 1a
- Symbol
- ldlrap1a Nomenclature History
- Previous Names
-
- sb:cb50
- zgc:56121
- Type
- protein_coding_gene
- Location
- Chr: 19 Mapping Details/Browsers
- Description
- Predicted to be active in early endosome. Is expressed in several structures, including apical ectodermal ridge pectoral fin bud; axis; cardiovascular system; nervous system; and pectoral fin. Human ortholog(s) of this gene implicated in autosomal recessive hypercholesterolemia. Orthologous to human LDLRAP1 (low density lipoprotein receptor adaptor protein 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 9 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- cb50 (25 images)
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| la028029Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| aik1 | Allele with one deletion | Exon 2 | Missense, Frameshift, Premature Stop | CRISPR |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| autosomal recessive hypercholesterolemia | Alliance | Hypercholesterolemia, familial, 4 | 603813 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Adapter and Engulfment Domain-Containing Protein | PH-like domain superfamily | PTB/PI domain |
|---|---|---|---|---|---|
| UniProtKB:A0A8M2B6I6 | InterPro | 275 | |||
| UniProtKB:Q7ZVB8 | InterPro | 287 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
ldlrap1a-201
(1)
|
Ensembl | 1,490 nt |
Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | DKEY-264P5 | ZFIN Curated Data | |
| Encodes | EST | cb50 | Thisse et al., 2001 | |
| Encodes | cDNA | MGC:56121 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:191823 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_198980 (1) | 1472 nt | ||
| Genomic | GenBank:CR954168 (2) | 128597 nt | ||
| Polypeptide | UniProtKB:Q7ZVB8 (1) | 287 aa |
- Jacome Sanz, D., Saralahti, A.K., Pekkarinen, M., Kesseli, J., Nykter, M., Rämet, M., Ojanen, M.J.T., Pesu, M. (2021) Proprotein Convertase Subtilisin/Kexin Type 9 (PCSK9) Regulates the Production of Acute-Phase Reactants from the Liver. Liver international : official journal of the International Association for the Study of the Liver. 41(10):2511-2522
- Wang, S., Yang, Q., Wang, Z., Feng, S., Li, H., Ji, D., Zhang, S. (2018) Evolutionary and Expression Analyses Show Co-option of khdrbs Genes for Origin of Vertebrate Brain.. Frontiers in genetics. 8:225
- Elkon, R., Milon, B., Morrison, L., Shah, M., Vijayakumar, S., Racherla, M., Leitch, C.C., Silipino, L., Hadi, S., Weiss-Gayet, M., Barras, E., Schmid, C.D., Ait-Lounis, A., Barnes, A., Song, Y., Eisenman, D.J., Eliyahu, E., Frolenkov, G.I., Strome, S.E., Durand, B., Zaghloul, N.A., Jones, S.M., Reith, W., Hertzano, R. (2015) RFX transcription factors are essential for hearing in mice. Nature communications. 6:8549
- Varshney, G.K., Lu, J., Gildea, D., Huang, H., Pei, W., Yang, Z., Huang, S.C., Schoenfeld, D.S., Pho, N., Casero, D., Hirase, T., Mosbrook-Davis, D.M., Zhang, S., Jao, L.E., Zhang, B., Woods, I.G., Zimmerman, S., Schier, A.F., Wolfsberg, T., Pellegrini, M., Burgess, S.M., and Lin, S. (2013) A large-scale zebrafish gene knockout resource for the genome-wide study of gene function. Genome research. 23(4):727-735
- Ferg, M., Sanges, R., Gehrig, J., Kiss, J., Bauer, M., Lovas, A., Szabo, M., Yang, L., Straehle, U., Pankratz, M.J., Olasz, F., Stupka, E., and Müller, F. (2007) The TATA-binding protein regulates maternal mRNA degradation and differential zygotic transcription in zebrafish. The EMBO journal. 26(17):3945-3956
- Wang, D., Jao, L.E., Zheng, N., Dolan, K., Ivey, J., Zonies, S., Wu, X., Wu, K., Yang, H., Meng, Q., Zhu, Z., Zhang, B., Lin, S., and Burgess, S.M. (2007) Efficient genome-wide mutagenesis of zebrafish genes by retroviral insertions. Proceedings of the National Academy of Sciences of the United States of America. 104(30):12428-12433
- 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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