Gene
trappc6b
- ID
- ZDB-GENE-041010-122
- Name
- trafficking protein particle complex subunit 6B
- Symbol
- trappc6b Nomenclature History
- Previous Names
-
- zgc:103464 (1)
- Type
- protein_coding_gene
- Location
- Chr: 23 Mapping Details/Browsers
- Description
- Predicted to be involved in endoplasmic reticulum to Golgi vesicle-mediated transport. Predicted to act upstream of or within Golgi vesicle transport and nervous system development. Predicted to be located in Golgi apparatus and endoplasmic reticulum. Predicted to be part of TRAPP complex. Predicted to be active in cis-Golgi network and trans-Golgi network. Is expressed in central nervous system. Used to study syndromic intellectual disability. Human ortholog(s) of this gene implicated in neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy. Orthologous to human TRAPPC6B (trafficking protein particle complex subunit 6B).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 2 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:103464 (1 image)
Wild Type Expression Summary
- All Phenotype Data
- 2 figures from Marin-Valencia et al., 2017
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
No data available
| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| MO1-trappc6b | N/A | Marin-Valencia et al., 2017 |
| MO2-trappc6b | N/A | Marin-Valencia et al., 2017 |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy | Alliance | Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy | 617862 |
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| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| syndromic intellectual disability | WT + MO1-trappc6b | standard conditions | Marin-Valencia et al., 2017 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | NO signalling/Golgi transport ligand-binding domain superfamily | Transport protein particle (TRAPP) component | TRAPP complex, Trs33 subunit |
|---|---|---|---|---|---|
| UniProtKB:F1QMV3 | InterPro | 157 |
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| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
trappc6b-201
(1)
|
Ensembl | 952 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-126G1 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:103464 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001006029 (1) | 954 nt | ||
| Genomic | GenBank:BX927210 (1) | 175627 nt | ||
| Polypeptide | UniProtKB:F1QMV3 (1) | 157 aa |
- 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
- Marin-Valencia, I., Novarino, G., Johansen, A., Rosti, B., Issa, M.Y., Musaev, D., Bhat, G., Scott, E., Silhavy, J.L., Stanley, V., Rosti, R.O., Gleeson, J.W., Imam, F.B., Zaki, M.S., Gleeson, J.G. (2017) A homozygous founder mutation in TRAPPC6B associates with a neurodevelopmental disorder characterised by microcephaly, epilepsy and autistic features.. Journal of Medical Genetics. 55(1):48-54
- 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
- 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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