| Tag | Content |
|---|---|
| Uniprot ID | P19324; Q5U4D0; |
| Entrez ID | 12406 |
| Genbank protein ID | BAC39684.1; BAE40347.1; BAE35546.1; BAC37075.1; BAC39683.1; BAC36935.1; BAC27413.1; BAC41093.1; BAE40689.1; CAA43091.1; BAA02298.1; AAH85143.1; BAC26283.1; AAA03200.1; BAC41032.1; |
| Genbank nucleotide ID | XM_006507278.3; NM_001285776.1; NM_009825.2; NM_001111044.1; XM_006507279.3; NM_001111043.1; |
| Ensembl protein ID | ENSMUSP00000091706; ENSMUSP00000146969; ENSMUSP00000126390; ENSMUSP00000147064; |
| Ensembl nucleotide ID | ENSMUSG00000070436 |
| Gene name | Serpin H1 |
| Gene symbol | Serpinh1 |
| Organism | Mus musculus |
| NCBI taxa ID | 10090 |
| Cleft type | CPO |
| Developmental stage | |
| Data sources | Manually collected |
| Reference | 22492985 |
| Functional description | Binds specifically to collagen. Could be involved as a chaperone in the biosynthetic pathway of collagen. |
| Sequence | MRSLLLGTLC LLAVALAAEV KKPLEAAAPG TAEKLSSKAT TLAERSTGLA FSLYQAMAKD 60 QAVENILLSP LVVASSLGLV SLGGKATTAS QAKAVLSAEK LRDEEVHTGL GELLRSLSNS 120 TARNVTWKLG SRLYGPSSVS FADDFVRSSK QHYNCEHSKI NFRDKRSALQ SINEWASQTT 180 DGKLPEVTKD VERTDGALLV NAMFFKPHWD EKFHHKMVDN RGFMVTRSYT VGVTMMHRTG 240 LYNYYDDEKE KLQMVEMPLA HKLSSLIILM PHHVEPLERL EKLLTKEQLK AWMGKMQKKA 300 VAISLPKGVV EVTHDLQKHL AGLGLTEAID KNKADLSRMS GKKDLYLASV FHATAFEWDT 360 EGNPFDQDIY GREELRSPKL FYADHPFIFL VRDNQSGSLL FIGRLVRPKG DKMRDEL 417 |
Abbreviation :
CLO : cleft lip only. CPO : cleft palate only.
CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.
| Relation | Gene symbol | Entrez ID | UniProt ID | Cleft type | Developmental stage | Species | Evidence | Details |
|---|---|---|---|---|---|---|---|---|
| 1:1 ortholog | SERPINH1 | 510850 | Q2KJH6 | Bos taurus | Prediction | More>> | ||
| 1:1 ortholog | SERPINH1 | 485187 | E2RHY7 | Canis lupus familiaris | Prediction | More>> | ||
| 1:1 ortholog | SERPINH1 | 102171265 | A0A452DNR6 | Capra hircus | Prediction | More>> | ||
| 1:1 ortholog | SERPINH1 | F6PWV8 | Equus caballus | Prediction | More>> | |||
| 1:1 ortholog | SERPINH1 | 871 | P50454 | Homo sapiens | Prediction | More>> | ||
| 1:1 ortholog | Serpinh1 | 12406 | P19324 | CPO | Mus musculus | Publication | More>> | |
| 1:1 ortholog | SERPINH1 | 466899 | G2HFZ7 | Pan troglodytes | Prediction | More>> | ||
| 1:1 ortholog | SERPINH1 | A0A286ZRU9 | Sus scrofa | Prediction | More>> | |||
| 1:1 ortholog | Serpinh1 | Q5RJR9 | Rattus norvegicus | Prediction | More>> |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0004867 | serine-type endopeptidase inhibitor activity | IBA |
| GO:0005515 | protein binding | IPI |
| GO:0005518 | collagen binding | IEA |
| GO:0051082 | unfolded protein binding | IDA |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0003433 | chondrocyte development involved in endochondral bone morphogenesis | IMP |
| GO:0010951 | negative regulation of endopeptidase activity | IBA |
| GO:0030199 | collagen fibril organization | IMP |
| GO:0030199 | collagen fibril organization | IBA |
| GO:0032964 | collagen biosynthetic process | IMP |
| GO:0051604 | protein maturation | IMP |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0005615 | extracellular space | IEA |
| GO:0005737 | cytoplasm | IDA |
| GO:0005783 | endoplasmic reticulum | ISO |
| GO:0005783 | endoplasmic reticulum | IDA |
| GO:0005783 | endoplasmic reticulum | IBA |
| GO:0005788 | endoplasmic reticulum lumen | IEA |
| GO:0005793 | endoplasmic reticulum-Golgi intermediate compartment | ISO |
| GO:0045121 | membrane raft | ISO |
| GO:0062023 | collagen-containing extracellular matrix | HDA |
| Reactome ID | Reactome Term | Evidence |
|---|---|---|
| R-MMU-1474244 | Extracellular matrix organization | IEA |
| R-MMU-1474290 | Collagen formation | IEA |
| R-MMU-1650814 | Collagen biosynthesis and modifying enzymes | IEA |
| Pfam ID | Pfam Term |
|---|---|
| PF00079 | Serpin |