Gene
pafah1b1a
- ID
- ZDB-GENE-040116-2
- Name
- platelet-activating factor acetylhydrolase 1b, regulatory subunit 1a
- Symbol
- pafah1b1a Nomenclature History
- Previous Names
-
- lis1b (1)
- Type
- protein_coding_gene
- Location
- Chr: 15 Mapping Details/Browsers
- Description
- Predicted to enable dynein complex binding activity; microtubule plus-end binding activity; and protein heterodimerization activity. Acts upstream of or within brain morphogenesis. Located in cytoplasm. Is expressed in several structures, including bone tissue; heart; liver; nervous system; and pleuroperitoneal region. Human ortholog(s) of this gene implicated in lissencephaly and lissencephaly 1. Orthologous to human PAFAH1B1 (platelet activating factor acetylhydrolase 1b regulatory subunit 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 9 figures from 4 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
Wild Type Expression Summary
- All Phenotype Data
- 1 Figure from Sun et al., 2009
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| s3025 | Allele with one deletion | Unknown | Unknown | CRISPR |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| CRISPR1-pafah1b1 | Zhang et al., 2024 | |
| MO1-pafah1b1a | N/A | Sun et al., 2009 |
| MO2-pafah1b1a | N/A | Sun et al., 2009 |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| lissencephaly 1 | Alliance | Lissencephaly 1 | 607432 |
| lissencephaly 1 | Alliance | Subcortical laminar heterotopia | 607432 |
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Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR006594 | LIS1 homology motif |
| Conserved_site | IPR019775 | WD40 repeat, conserved site |
| Family | IPR017252 | Dynein regulator LIS1 |
| Family | IPR050844 | Coatomer complex subunit |
| Homologous_superfamily | IPR015943 | WD40/YVTN repeat-like-containing domain superfamily |
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Domain Details Per Protein
| Protein | Additional Resources | Length | Coatomer complex subunit | Dynein regulator LIS1 | G-protein beta WD-40 repeat | LIS1 homology motif | LIS1, N-terminal | WD40 repeat | WD40 repeat, conserved site | WD40-repeat-containing domain superfamily | WD40/YVTN repeat-like-containing domain superfamily |
|---|---|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:B2GQS8 | InterPro | 410 | |||||||||
| UniProtKB:Q7T394 | InterPro | 410 |
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| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
pafah1b1a-201
(1)
|
Ensembl | 2,252 nt | ||
| mRNA |
pafah1b1a-203
(1)
|
Ensembl | 1,671 nt | ||
| ncRNA |
pafah1b1a-002
(1)
|
Ensembl | 746 nt |
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Interactions and Pathways
No data available
| Name | Type | Antigen Genes | Isotype | Host Organism | Assay | Source | Citations |
|---|---|---|---|---|---|---|---|
| Ab1-pafah1b1 | polyclonal | Rabbit |
|
1 |
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Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | DKEY-95O3 | ZFIN Curated Data | |
| Encodes | EST | IMAGE:7136312 | Thisse et al., 2004 | |
| Encodes | cDNA | MGC:64021 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:192031 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_201345 (1) | 1786 nt | ||
| Genomic | GenBank:BX324162 (1) | 155540 nt | ||
| Polypeptide | UniProtKB:B2GQS8 (1) | 410 aa |
- Zhang, Y., Liu, Y., Qin, W., Zheng, S., Xiao, J., Xia, X., Yuan, X., Zeng, J., Shi, Y., Zhang, Y., Ma, H., Varshney, G.K., Fei, J.F., Liu, Y. (2024) Cytosine base editors with increased PAM and deaminase motif flexibility for gene editing in zebrafish. Nature communications. 15:95269526
- Griffin, A., Carpenter, C., Liu, J., Paterno, R., Grone, B., Hamling, K., Moog, M., Dinday, M.T., Figueroa, F., Anvar, M., Ononuju, C., Qu, T., Baraban, S.C. (2021) Phenotypic analysis of catastrophic childhood epilepsy genes. Communications biology. 4:680
- Bercier, V., Hubbard, J.M., Fidelin, K., Duroure, K., Auer, T.O., Revenu, C., Wyart, C., Del Bene, F. (2019) Dynactin1 depletion leads to neuromuscular synapse instability and functional abnormalities. Molecular neurodegeneration. 14:27
- Bayés, À., Collins, M.O., Reig-Viader, R., Gou, G., Goulding, D., Izquierdo, A., Choudhary, J.S., Emes, R.D., Grant, S.G. (2017) Evolution of complexity in the zebrafish synapse proteome. Nature communications. 8:14613
- Braasch, I., Gehrke, A.R., Smith, J.J., Kawasaki, K., Manousaki, T., Pasquier, J., Amores, A., Desvignes, T., Batzel, P., Catchen, J., Berlin, A.M., Campbell, M.S., Barrell, D., Martin, K.J., Mulley, J.F., Ravi, V., Lee, A.P., Nakamura, T., Chalopin, D., Fan, S., Wcisel, D., Cañestro, C., Sydes, J., Beaudry, F.E., Sun, Y., Hertel, J., Beam, M.J., Fasold, M., Ishiyama, M., Johnson, J., Kehr, S., Lara, M., Letaw, J.H., Litman, G.W., Litman, R.T., Mikami, M., Ota, T., Saha, N.R., Williams, L., Stadler, P.F., Wang, H., Taylor, J.S., Fontenot, Q., Ferrara, A., Searle, S.M., Aken, B., Yandell, M., Schneider, I., Yoder, J.A., Volff, J.N., Meyer, A., Amemiya, C.T., Venkatesh, B., Holland, P.W., Guiguen, Y., Bobe, J., Shubin, N.H., Di Palma, F., Alföldi, J., Lindblad-Toh, K., Postlethwait, J.H. (2016) The spotted gar genome illuminates vertebrate evolution and facilitates human-teleost comparisons. Nature Genetics. 48(4):427-37
- 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
- Drerup, C.M., Wiora, H.M., and Morris, J.A. (2010) Characterization of the overlapping expression patterns of the zebrafish LIS1 orthologs. Gene expression patterns : GEP. 10(1):75-85
- Sun, C., Xu, M., Xing, Z., Wu, Z., Li, Y., Li, T., and Zhao, M. (2009) Expression and function on embryonic development of lissencephaly-1 genes in zebrafish. Acta biochimica et biophysica Sinica. 41(8):677-688
- Tsujikawa, M., Omori, Y., Biyanwila, J., and Malicki, J. (2007) Mechanism of positioning the cell nucleus in vertebrate photoreceptors. Proceedings of the National Academy of Sciences of the United States of America. 104(37):14819-14824
- 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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