| Tag | Content |
|---|---|
| Uniprot ID | A3KMH1; O60310; Q5JTP6; Q5VW08; Q7Z6I9; Q86YC9; Q8N3E4; |
| Entrez ID | 23078 |
| Genbank protein ID | BAA25490.1; AAI31803.1; AAH53674.2; AAH42924.2; CAD38878.1; |
| Genbank nucleotide ID | NM_001009814.1; NM_015058.1; XM_017020474.1; |
| Ensembl protein ID | ENSP00000281496; ENSP00000368612; |
| Ensembl nucleotide ID | ENSG00000102763 |
| Gene name | von Willebrand factor A domain-containing protein 8 |
| Gene symbol | VWA8 |
| Organism | Homo sapiens |
| NCBI taxa ID | 9606 |
| Cleft type | |
| Developmental stage | |
| Data sources | Manually collected |
| Reference | 27229527 |
| Functional description | Exhibits ATPase activity in vitro. |
| Sequence | MQSRLLLLGA PGGHGGPASR RMRLLLRQVV QRRPGGDRQR PEVRLLHAGS GADTGDTVNI 60 GDVSYKLKIP KNPELVPQNY ISDSLAQSVV QHLRWIMQKD LLGQDVFLIG PPGPLRRSIA 120 MQYLELTKRE VEYIALSRDT TETDLKQRRE IRAGTAFYID QCAVRAATEG RTLILEGLEK 180 AERNVLPVLN NLLENREMQL EDGRFLMSAE RYDKLLRDHT KKELDSWKIV RVSENFRVIA 240 LGLPVPRYSG NPLDPPLRSR FQARDIYYLP FKDQLKLLYS IGANVSAEKV SQLLSFATTL 300 CSQESSTLGL PDFPLDSLAA AVQILDSFPM MPIKHAIQWL YPYSILLGHE GKMAVEGVLK 360 RFELQDSGSS LLPKEIVKVE KMMENHVSQA SVTIRIADKE VTIKVPAGTR LLSQPCASDR 420 FIQTLSHKQL QAEMMQSHMV KDICLIGGKG CGKTVIAKNF ADTLGYNIEP IMLYQDMTAR 480 DLLQQRYTLP NGDTAWRSSP LVNAALEGKL VLLDGIHRVN AGTLAVLQRL IHDRELSLYD 540 GSRLLREDRY MRLKEELQLS DEQLQKRSIF PIHPSFRIIA LAEPPVIGST AHQWLGPEFL 600 TMFFFHYMKP LVKSEEIQVI KEKVPNVPQE ALDKLLSFTH KLRETQDPTA QSLAASLSTR 660 QLLRISRRLS QYPNENLHSA VTKACLSRFL PSLARSALEK NLADATIEIN TDDNLEPELK 720 DYKCEVTSGT LRIGAVSAPI YNAHEKMKVP DVLFYDNIQH VIVMEDMLKD FLLGEHLLLV 780 GNQGVGKNKI VDRFLHLLNR PREYIQLHRD TTVQTLTLQP SVKDGLIVYE DSPLVKAVKL 840 GHILVVDEAD KAPTNVTCIL KTLVENGEMI LADGRRIVAN SANVNGRENV VVIHPDFRMI 900 VLANRPGFPF LGNDFFGTLG DIFSCHAVDN PKPHSELEML RQYGPNVPEP ILQKLVAAFG 960 ELRSLADQGI INYPYSTREV VNIVKHLQKF PTEGLSSVVR NVFDFDSYNN DMREILINTL 1020 HKYGIPIGAK PTSVQLAKEL TLPEQTFMGY WTIGQARSGM QKLLCPVETH HIDIKGPALI 1080 NIQEYPIERH EERSLNFTEE CASWRIPLDE INIICDIATS HENEQNTLYV VTCNPASLYF 1140 MNMTGKSGFF VDFFDIFPRT ANGVWHPFVT VAPLGSPLKG QVVLHEQQSN VILLLDTTGR 1200 ALHRLILPSE KFTSKKPFWW NKEEAETYKM CKEFSHKNWL VFYKEKGNSL TVLDVLEGRT 1260 HTISLPINLK TVFLVAEDKW LLVESKTNQK YLLTKPAHIE SEGSGVCQLY VLKEEPPSTG 1320 FGVTQETEFS IPHKISSDQL SSEHLSSAVE QKIASPNRIL SDEKNYATIV VGFPDLMSPS 1380 EVYSWKRPSS LHKRSGTDTS FYRGKKKRGT PKQSNCVTLL DTNQVVRILP PGEVPLKDIY 1440 PKDVTPPQTS GYIEVTDLQS KKLRYIPIPR SESLSPYTTW LSTISDTDAL LAEWDKSGVV 1500 TVDMGGHIRL WETGLERLQR SLMEWRNMIG QDDRNMQITI NRDSGEDVSS PKHGKEDPDN 1560 MPHVGGNTWA GGTGGRDTAG LGGKGGPYRL DAGHTVYQVS QAEKDAVPEE VKRAAREMGQ 1620 RAFQQRLKEI QMSEYDAATY ERFSGAVRRQ VHSLRIILDN LQAKGKERQW LRHQATGELD 1680 DAKIIDGLTG EKAIYKRRGE LEPQLGSPQQ KPKRLRLVVD VSGSMYRFNR MDGRLERTME 1740 AVCMVMEAFE NYEEKFQYDI VGHSGDGYNI GLVPMNKIPK DNKQRLEILK TMHAHSQFCM 1800 SGDHTLEGTE HAIKEIVKEE ADEYFVIVLS DANLSRYGIH PAKFAQILTR DPQVNAFAIF 1860 IGSLGDQATR LQRTLPAGRS FVAMDTKDIP QILQQIFTST MLSSV 1905 |
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.