DISP1
entrez
84976
canonical
uniprot
Q96F81
canonical
ensembl
ENSG00000154309
resolver
ensp
ENSP00000284476
resolver
ensp
ENSP00000501574
resolver
ensp
ENSP00000501808
resolver
ensp
ENSP00000502357
resolver
ensp
ENSP00000570792
resolver
ensp
ENSP00000570793
resolver
ensp
ENSP00000570794
resolver
ensp
ENSP00000570795
resolver
ensp
ENSP00000570796
resolver
ensp
ENSP00000570797
resolver
ensp
ENSP00000570798
resolver
ensp
ENSP00000570799
resolver
ensp
ENSP00000570800
resolver
ensp
ENSP00000570801
resolver
ensp
ENSP00000570802
resolver
ensp
ENSP00000570803
resolver
ensp
ENSP00000570804
resolver
ensp
ENSP00000570805
resolver
ensp
ENSP00000610159
resolver
ensp
ENSP00000610160
resolver
ensp
ENSP00000610161
resolver
ensp
ENSP00000610162
resolver
ensp
ENSP00000623704
resolver
ensp
ENSP00000623705
resolver
ensp
ENSP00000623706
resolver
enst
ENST00000284476
resolver
enst
ENST00000675039
resolver
enst
ENST00000675850
resolver
enst
ENST00000675961
resolver
enst
ENST00000900733
resolver
enst
ENST00000900734
resolver
enst
ENST00000900735
resolver
enst
ENST00000900736
resolver
enst
ENST00000900737
resolver
enst
ENST00000900738
resolver
enst
ENST00000900739
resolver
enst
ENST00000900740
resolver
enst
ENST00000900741
resolver
enst
ENST00000900742
resolver
enst
ENST00000900743
resolver
enst
ENST00000900744
resolver
enst
ENST00000900745
resolver
enst
ENST00000900746
resolver
enst
ENST00000940100
resolver
enst
ENST00000940101
resolver
enst
ENST00000940102
resolver
enst
ENST00000940103
resolver
enst
ENST00000953645
resolver
enst
ENST00000953646
resolver
enst
ENST00000953647
resolver
genesymbol
DISP1
resolver
genesymbol_syn
DISPA
resolver
hgnc
HGNC:19711
resolver
uniprot
Q8N7C2
resolver
uniprot
Q96I92
resolver
uniprot
Q9H698
resolver
uniprot
Q9H8H9
resolver
uniprot
Q9UFA2
resolver
uniprot_entry
DISP1_HUMAN
resolver
uniprot_sec
Q8N7C2
resolver
uniprot_sec
Q96I92
resolver
uniprot_sec
Q9H698
resolver
uniprot_sec
Q9H8H9
resolver
uniprot_sec
Q9UFA2
resolver
amino_acid_sequence
MAMSNGNNDFVVLSNSSIATSAANPSPLTPCDGDHAAQQLTPKEATRTKVSPNGCLQLNGTVKSSFLPLDNQRMPQMLPQCCHPCPYHHPLTSHSSHQECHPEAGPAAPSALASCCMQPHSEYSASLCPNHSPVYQTTCCLQPSPSFCLHHPWPDHFQHQPVQQHIANIRPSRPFKLPKSYAALIADWPVVVLGMCTMFIVVCALVGVLVPELPDFSDPLLGFEPRGTAIGQRLVTWNNMVKNTGYKATLANYPFKYADEQAKSHRDDRWSDDHYEREKREVDWNFHKDSFFCDVPSDRYSRVVFTSSGGETLWNLPAIKSMCNVDNSRIRSHPQFGDLCQRTTAASCCPSWTLGNYIAILNNRSSCQKIVERDVSHTLKLLRTCAKHYQNGTLGPDCWDMAARRKDQLKCTNVPRKCTKYNAVYQILHYLVDKDFMTPKTADYATPALKYSMLFSPTEKGESMMNIYLDNFENWNSSDGVTTITGIEFGIKHSLFQDYLLMDTVYPAIAIVIVLLVMCVYTKSMFITLMTMFAIISSLIVSYFLYRVVFHFEFFPFMNLTALIILVGIGADDAFVLCDVWNYTKFDKPHAETSETVSITLQHAALSMFVTSFTTAAAFYANYVSNITAIRCFGVYAGTAILVNYVLMVTWLPAVVVLHERYLLNIFTCFKKPQQQIYDNKSCWTVACQKCHKVLFAISEASRIFFEKVLPCIVIKFRYLWLFWFLALTVGGAYIVCINPKMKLPSLELSEFQVFRSSHPFERYDAEYKKLFMFERVHHGEELHMPITVIWGVSPEDNGNPLNPKSKGKLTLDSSFNIASPASQAWILHFCQKLRNQTFFYQTDEQDFTSCFIETFKQWMENQDCDEPALYPCCSHWSFPYKQEIFELCIKRAIMELERSTGYHLDSKTPGPRFDINDTIRAVVLEFQSTYLFTLAYEKMHQFYKEVDSWISSELSSAPEGLSNGWFVSNLEFYDLQDSLSDGTLIAMGLSVAVAFSVMLLTTWNIIISLYAIISIAGTIFVTVGSLVLLGWELNVLESVTISVAVGLSVDFAVHYGVAYRLAPDPDREGKVIFSLSRVGSAMAMAALTTFVAGAMMMPSTVLAYTQLGTFMMLIMCISWAFATFFFQCMCRCLGPQGTCGQIPLPKKLQCSAFSHALSTSPSDKGQSKTHTINAYHLDPRGPKSELEHEFYELEPLASHSCTAPEKTTYEETHICSEFFNSQAKNLGMPVHAAYNSELSKSTESDAGSALLQPPLEQHTVCHFFSLNQRCSCPDAYKHLNYGPHSCQQMGDCLCHQCSPTTSSFVQIQNGVAPLKATHQAVEGFVHPITHIHHCPCLQGRVKPAGMQNSLPRNFFLHPVQHIQAQEKIGKTNVHSLQRSIEEHLPKMAEPSSFVCRSTGSLLKTCCDPENKQRELCKNRDVSNLESSGGTENKAGGKVELSLSQTDASVNSEHFNQNEPKVLFNHLMGEAGCRSCPNNSQSCGRIVRVKCNSVDCQMPNMEANVPAVLTHSELSGESLLIKTL
uniprot
proteins
disease_involvement
DISEASE: Holoprosencephaly 10 (HPE10) [MIM:621143]: A form of holoprosencephaly, a structural anomaly of the brain in which the developing forebrain fails to correctly separate into right and left hemispheres. It is a genetically and clinically heterogeneous disorder with a wide spectrum of severity, ranging from alobar holoprosencephaly with severe facial abnormalities, such as cyclopia and proboscis, to mild forms that include lobar or microform holoprosencephaly, without cerebral malformations and with mild craniofacial defects. HPE10 inheritance pattern is autosomal recessive. Autosomal dominant inheritance with incomplete penetrance or oligogenic inheritance have been reported in some families. {ECO:0000269|PubMed:19184110, ECO:0000269|PubMed:38529886}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Functions in hedgehog (Hh) signaling. Regulates the release and extracellular accumulation of cholesterol-modified hedgehog proteins and is hence required for effective production of the Hh signal (By similarity). Synergizes with SCUBE2 to cause an increase in SHH secretion (PubMed:22902404). {ECO:0000250|UniProtKB:Q3TDN0, ECO:0000269|PubMed:22902404}.
uniprot
proteins
mass_dalton
170934
uniprot
proteins
protein_family
Dispatched family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
19184110
uniprot
proteins
pubmed
22902404
uniprot
proteins
pubmed
38529886
uniprot
proteins
sequence_length
1524
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
uniprot
proteins
transmembrane_region
TRANSMEM 190..210; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 500..520; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 525..545; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 549..569; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 604..624; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 638..658; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 719..739; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 988..1008; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 1010..1030; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 1040..1060; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 1079..1099; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 1107..1127; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins