Gene
serpind1
- ID
- ZDB-GENE-030711-2
- Name
- serpin peptidase inhibitor, clade D (heparin cofactor), member 1
- Symbol
- serpind1 Nomenclature History
- Previous Names
-
- HCII (1)
- Type
- protein_coding_gene
- Location
- Chr: 8 Mapping Details/Browsers
- Description
- Predicted to enable serine-type endopeptidase inhibitor activity. Predicted to be involved in negative regulation of endopeptidase activity. Predicted to act upstream of or within blood coagulation. Predicted to be active in extracellular space. Is expressed in liver. Human ortholog(s) of this gene implicated in heparin cofactor II deficiency. Orthologous to human SERPIND1 (serpin family D member 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 2 figures from Cheng et al., 2006
- 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
No data available
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| heparin cofactor II deficiency | Alliance | Thrombophilia 10 due to heparin cofactor II deficiency | 612356 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Heparin cofactor II, serpin domain | Serpin, conserved site | Serpin domain | Serpin family | Serpin superfamily | Serpin superfamily, domain 1 | Serpin superfamily, domain 2 |
|---|---|---|---|---|---|---|---|---|
|
UniProtKB:Q8AYE2
|
507 | |||||||
|
UniProtKB:B0V3R7
|
507 |
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| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
serpind1-201
(1)
|
Ensembl | 2,469 nt | ||
| mRNA |
serpind1-202
(1)
|
Ensembl | 2,422 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 | CH73-325I8 | ZFIN Curated Data | |
| Contained in | BAC | DKEY-178E17 | ZFIN Curated Data | |
| Encodes | EST | IMAGE:7140479 | Thisse et al., 2004 | |
| Encodes | EST | fb63c11 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:109770 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:174812 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_182880 (1) | 2422 nt | ||
| Genomic | GenBank:CR788303 (1) | 175313 nt | ||
| Polypeptide | UniProtKB:B0V3R7 (1) | 507 aa |
- Campbell, P.D., Lee, I., Thyme, S., Granato, M. (2023) Mitochondrial proteins encoded by the 22q11.2 neurodevelopmental locus regulate neural stem and progenitor cell proliferation. Molecular psychiatry. 28(9):3769-3781
- Wu, T.S., Lin, Y.T., Huang, Y.T., Yu, F.Y., Liu, B.H. (2019) Ochratoxin A triggered intracerebral hemorrhage in embryonic zebrafish: Involvement of microRNA-731 and prolactin receptor. Chemosphere. 242:125143
- Chen, L., Huang, R., Zhu, D., Wang, Y., Mehjabin, R., Li, Y., Liao, L., He, L., Zhu, Z., Wang, Y. (2018) Cloning of six serpin genes and their responses to GCRV infection in grass carp (Ctenopharyngodon idella). Fish & shellfish immunology. 86:93-100
- Lopez-Rivera, E., Liu, Y.P., Verbitsky, M., Anderson, B.R., Capone, V.P., Otto, E.A., Yan, Z., Mitrotti, A., Martino, J., Steers, N.J., Fasel, D.A., Vukojevic, K., Deng, R., Racedo, S.E., Liu, Q., Werth, M., Westland, R., Vivante, A., Makar, G.S., Bodria, M., Sampson, M.G., Gillies, C.E., Vega-Warner, V., Maiorana, M., Petrey, D.S., Honig, B., Lozanovski, V.J., Salomon, R., Heidet, L., Carpentier, W., Gaillard, D., Carrea, A., Gesualdo, L., Cusi, D., Izzi, C., Scolari, F., van Wijk, J.A., Arapovic, A., Saraga-Babic, M., Saraga, M., Kunac, N., Samii, A., McDonald-McGinn, D.M., Crowley, T.B., Zackai, E.H., Drozdz, D., Miklaszewska, M., Tkaczyk, M., Sikora, P., Szczepanska, M., Mizerska-Wasiak, M., Krzemien, G., Szmigielska, A., Zaniew, M., Darlow, J.M., Puri, P., Barton, D., Casolari, E., Furth, S.L., Warady, B.A., Gucev, Z., Hakonarson, H., Flogelova, H., Tasic, V., Latos-Bielenska, A., Materna-Kiryluk, A., Allegri, L., Wong, C.S., Drummond, I.A., D'Agati, V., Imamoto, A., Barasch, J.M., Hildebrandt, F., Kiryluk, K., Lifton, R.P., Morrow, B.E., Jeanpierre, C., Papaioannou, V.E., Ghiggeri, G.M., Gharavi, A.G., Katsanis, N., Sanna-Cherchi, S. (2017) Genetic Drivers of Kidney Defects in the DiGeorge Syndrome. The New England Journal of Medicine. 376(8):742-754
- 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
- Estepa, A., Coll, J. (2015) Inhibition of SERPINe1 reduces rhabdoviral infections in zebrafish. Fish & shellfish immunology. 47(1):264-70
- Guna, A., Butcher, N.J., Bassett, A.S. (2015) Comparative mapping of the 22q11.2 deletion region and the potential of simple model organisms. Journal of neurodevelopmental disorders. 7:18
- Li, Q., Frank, M., Akiyama, M., Shimizu, H., Ho, S.Y., Thisse, C., Thisse, B., Sprecher, E., and Uitto, J. (2011) Abca12-mediated lipid transport and Snap29-dependent trafficking of lamellar granules are crucial for epidermal morphogenesis in a zebrafish model of ichthyosis. Disease models & mechanisms. 4(6):777-85
- Cheng, W., Guo, L., Zhang, Z., Soo, H.M., Wen, C., Wu, W., and Peng, J. (2006) HNF factors form a network to regulate liver-enriched genes in zebrafish. Developmental Biology. 294(2):482-496
- Lo, J., Lee, S., Xu, M., Liu, F., Ruan, H., Eun, A., He, Y., Ma, W., Wang, W., Wen, Z., and Peng, J. (2003) 15,000 unique zebrafish EST clusters and their future use in microarray for profiling gene expression patterns during embryogenesis. Genome research. 13(3):455-466
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