Gene
pitpnaa
- ID
- ZDB-GENE-040426-744
- Name
- phosphatidylinositol transfer protein, alpha a
- Symbol
- pitpnaa Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 15 Mapping Details/Browsers
- Description
- Predicted to enable phospholipid binding activity and phospholipid transporter activity. Acts upstream of or within axonogenesis and chordate embryonic development. Located in cytosol and nucleus. Is expressed in several structures, including blood; digestive system; epidermis; nervous system; and periderm. Orthologous to human PITPNA (phosphatidylinositol transfer protein alpha).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 10 figures from 4 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:55569 (12 images)
Wild Type Expression Summary
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| sa22661 | Allele with one point mutation | Unknown | Splice Site, Premature Stop | ENU |
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Human Disease
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Phosphatidylinositol transfer protein | START-like domain superfamily |
|---|---|---|---|
|
UniProtKB:Q803U3
|
271 |
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| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
pitpnaa-201
(1)
|
Ensembl | 816 nt | ||
| mRNA |
pitpnaa-202
(1)
|
Ensembl | 1,756 nt | ||
| mRNA |
pitpnaa-203
(1)
|
Ensembl | 1,779 nt |
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Interactions and Pathways
No data available
| Name | Type | Antigen Genes | Isotype | Host Organism | Assay | Source | Citations |
|---|---|---|---|---|---|---|---|
| Ab1-pitpna | monoclonal | IgG2a , k | Mouse |
|
Sigma-Aldrich
|
2 |
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Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | CH211-190A13 | ZFIN Curated Data | |
| Contained in | BAC | DKEY-118K5 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:55569 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:191128 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_200935 (1) | 1752 nt | ||
| Genomic | GenBank:CU570681 | 116371 nt | ||
| Polypeptide | UniProtKB:Q803U3 (1) | 271 aa |
- Lambert, M.R., Spinazzola, J.M., Widrick, J.J., Pakula, A., Conner, J.R., Chin, J.E., Owens, J.M., Kunkel, L.M. (2020) PDE10A inhibition reduces the manifestation of pathology in DMD zebrafish and represses the genetic modifier PITPNA. Molecular therapy : the journal of the American Society of Gene Therapy. 29(3):1086-1101
- Vieira, N.M., Spinazzola, J.M., Alexander, M.S., Moreira, Y.B., Kawahara, G., Gibbs, D.E., Mead, L.C., Verjovski-Almeida, S., Zatz, M., Kunkel, L.M. (2017) Repression of phosphatidylinositol transfer protein α ameliorates the pathology of Duchenne muscular dystrophy. Proceedings of the National Academy of Sciences of the United States of America. 114(23):6080-6085
- 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
- Fai Tse, W.K., Li, J.W., Kwan Tse, A.C., Chan, T.F., Hin Ho, J.C., Sun Wu, R.S., Chu Wong, C.K., Lai, K.P. (2016) Fatty liver disease induced by perfluorooctane sulfonate: Novel insight from transcriptome analysis. Chemosphere. 159:166-177
- 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
- Ile, K.E., Kassen, S., Cao, C., Vihtehlic, T., Shah, S.D., Mousley, C.J., Alb, J.G. Jr, Huijbregts, R.P., Stearns, G.W., Brockerhoff, S.E., Hyde, D.R., and Bankaitis, V.A. (2010) Zebrafish Class 1 Phosphatidylinositol Transfer Proteins: PITPbeta and Double Cone Cell Outer Segment Integrity in Retina. Traffic (Copenhagen, Denmark). 11(9):1151-1167
- Harden, M.V., Newton, L.A., Lloyd, R.C., Whitlock, K.E. (2006) Olfactory imprinting is correlated with changes in gene expression in the olfactory epithelia of the zebrafish. Journal of neurobiology. 66(13):1452-1466
- Xie, Y., Ding, Y.Q., Hong, Y., Feng, Z., Navarre, S., Xi, C.X., Zhu, X.J., Wang, C.L., Ackerman, S.L., Kozlowski, D., Mei, L., and Xiong, W.C. (2005) Phosphatidylinositol transfer protein-alpha in netrin-1-induced PLC signalling and neurite outgrowth. Nature cell biology. 7(11):1124-1132
- 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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