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Q96F81 (DISP1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 88. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Protein dispatched homolog 1
Gene names
Name:DISP1
Synonyms:DISPA
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1524 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

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.

Subcellular location

Membrane; Multi-pass membrane protein Potential.

Sequence similarities

Belongs to the dispatched family.

Contains 1 SSD (sterol-sensing) domain.

Sequence caution

The sequence AAH07734.1 differs from that shown. Reason: Contaminating sequence. Potential poly-A sequence.

The sequence BAB14637.1 differs from that shown. Reason: Frameshift at positions 1391, 1393 and 1413.

The sequence BAB15365.1 differs from that shown. Reason: Erroneous initiation.

Ontologies

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 15241524Protein dispatched homolog 1
PRO_0000310693

Regions

Transmembrane190 – 21021Helical; Potential
Transmembrane500 – 52021Helical; Potential
Transmembrane525 – 54521Helical; Potential
Transmembrane549 – 56921Helical; Potential
Transmembrane604 – 62421Helical; Potential
Transmembrane638 – 65821Helical; Potential
Transmembrane719 – 73921Helical; Potential
Transmembrane988 – 100821Helical; Potential
Transmembrane1010 – 103021Helical; Potential
Transmembrane1040 – 106021Helical; Potential
Transmembrane1079 – 109921Helical; Potential
Transmembrane1107 – 112721Helical; Potential
Domain486 – 658173SSD

Amino acid modifications

Glycosylation591N-linked (GlcNAc...) Potential
Glycosylation5821N-linked (GlcNAc...) Potential

Natural variations

Natural variant1031E → K.
Corresponds to variant rs2609383 [ dbSNP | Ensembl ].
VAR_037077

Experimental info

Sequence conflict1951M → I in BAC05373. Ref.2
Sequence conflict12471A → T in CAB61406. Ref.3
Sequence conflict13791R → G in BAB14637. Ref.2
Sequence conflict13921S → V in BAB14637. Ref.2
Sequence conflict14081D → N in AAH11542. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Q96F81 [UniParc].

Last modified November 13, 2007. Version 3.
Checksum: 76399E8100DBC648

FASTA1,524170,934
        10         20         30         40         50         60 
MAMSNGNNDF VVLSNSSIAT SAANPSPLTP CDGDHAAQQL TPKEATRTKV SPNGCLQLNG 

        70         80         90        100        110        120 
TVKSSFLPLD NQRMPQMLPQ CCHPCPYHHP LTSHSSHQEC HPEAGPAAPS ALASCCMQPH 

       130        140        150        160        170        180 
SEYSASLCPN HSPVYQTTCC LQPSPSFCLH HPWPDHFQHQ PVQQHIANIR PSRPFKLPKS 

       190        200        210        220        230        240 
YAALIADWPV VVLGMCTMFI VVCALVGVLV PELPDFSDPL LGFEPRGTAI GQRLVTWNNM 

       250        260        270        280        290        300 
VKNTGYKATL ANYPFKYADE QAKSHRDDRW SDDHYEREKR EVDWNFHKDS FFCDVPSDRY 

       310        320        330        340        350        360 
SRVVFTSSGG ETLWNLPAIK SMCNVDNSRI RSHPQFGDLC QRTTAASCCP SWTLGNYIAI 

       370        380        390        400        410        420 
LNNRSSCQKI VERDVSHTLK LLRTCAKHYQ NGTLGPDCWD MAARRKDQLK CTNVPRKCTK 

       430        440        450        460        470        480 
YNAVYQILHY LVDKDFMTPK TADYATPALK YSMLFSPTEK GESMMNIYLD NFENWNSSDG 

       490        500        510        520        530        540 
VTTITGIEFG IKHSLFQDYL LMDTVYPAIA IVIVLLVMCV YTKSMFITLM TMFAIISSLI 

       550        560        570        580        590        600 
VSYFLYRVVF HFEFFPFMNL TALIILVGIG ADDAFVLCDV WNYTKFDKPH AETSETVSIT 

       610        620        630        640        650        660 
LQHAALSMFV TSFTTAAAFY ANYVSNITAI RCFGVYAGTA ILVNYVLMVT WLPAVVVLHE 

       670        680        690        700        710        720 
RYLLNIFTCF KKPQQQIYDN KSCWTVACQK CHKVLFAISE ASRIFFEKVL PCIVIKFRYL 

       730        740        750        760        770        780 
WLFWFLALTV GGAYIVCINP KMKLPSLELS EFQVFRSSHP FERYDAEYKK LFMFERVHHG 

       790        800        810        820        830        840 
EELHMPITVI WGVSPEDNGN PLNPKSKGKL TLDSSFNIAS PASQAWILHF CQKLRNQTFF 

       850        860        870        880        890        900 
YQTDEQDFTS CFIETFKQWM ENQDCDEPAL YPCCSHWSFP YKQEIFELCI KRAIMELERS 

       910        920        930        940        950        960 
TGYHLDSKTP GPRFDINDTI RAVVLEFQST YLFTLAYEKM HQFYKEVDSW ISSELSSAPE 

       970        980        990       1000       1010       1020 
GLSNGWFVSN LEFYDLQDSL SDGTLIAMGL SVAVAFSVML LTTWNIIISL YAIISIAGTI 

      1030       1040       1050       1060       1070       1080 
FVTVGSLVLL GWELNVLESV TISVAVGLSV DFAVHYGVAY RLAPDPDREG KVIFSLSRVG 

      1090       1100       1110       1120       1130       1140 
SAMAMAALTT FVAGAMMMPS TVLAYTQLGT FMMLIMCISW AFATFFFQCM CRCLGPQGTC 

      1150       1160       1170       1180       1190       1200 
GQIPLPKKLQ CSAFSHALST SPSDKGQSKT HTINAYHLDP RGPKSELEHE FYELEPLASH 

      1210       1220       1230       1240       1250       1260 
SCTAPEKTTY EETHICSEFF NSQAKNLGMP VHAAYNSELS KSTESDAGSA LLQPPLEQHT 

      1270       1280       1290       1300       1310       1320 
VCHFFSLNQR CSCPDAYKHL NYGPHSCQQM GDCLCHQCSP TTSSFVQIQN GVAPLKATHQ 

      1330       1340       1350       1360       1370       1380 
AVEGFVHPIT HIHHCPCLQG RVKPAGMQNS LPRNFFLHPV QHIQAQEKIG KTNVHSLQRS 

      1390       1400       1410       1420       1430       1440 
IEEHLPKMAE PSSFVCRSTG SLLKTCCDPE NKQRELCKNR DVSNLESSGG TENKAGGKVE 

      1450       1460       1470       1480       1490       1500 
LSLSQTDASV NSEHFNQNEP KVLFNHLMGE AGCRSCPNNS QSCGRIVRVK CNSVDCQMPN 

      1510       1520 
MEANVPAVLT HSELSGESLL IKTL 

« Hide

References

[1]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Colon and Muscle.
[2]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-512 AND 596-1524.
Tissue: Kidney epithelium, Placenta and Testis.
[3]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 768-1524.
Tissue: Testis.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
BC007734 mRNA. Translation: AAH07734.1. Sequence problems.
BC011542 mRNA. Translation: AAH11542.2.
AK023679 mRNA. Translation: BAB14637.1. Frameshift.
AK026114 mRNA. Translation: BAB15365.1. Different initiation.
AK098669 mRNA. Translation: BAC05373.1.
AL133092 mRNA. Translation: CAB61406.1.
CCDSCCDS1536.1.
PIRT42693.
RefSeqNP_116279.2. NM_032890.3.
XP_005273392.1. XM_005273335.1.
XP_006711655.1. XM_006711592.1.
XP_006711656.1. XM_006711593.1.
UniGeneHs.528817.
Hs.692324.

3D structure databases

ProteinModelPortalQ96F81.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid124405. 1 interaction.
STRING9606.ENSP00000284476.

PTM databases

PhosphoSiteQ96F81.

Polymorphism databases

DMDM160380707.

Proteomic databases

PaxDbQ96F81.
PRIDEQ96F81.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000284476; ENSP00000284476; ENSG00000154309.
GeneID84976.
KEGGhsa:84976.
UCSCuc001hnu.2. human.

Organism-specific databases

CTD84976.
GeneCardsGC01P222989.
H-InvDBHIX0001620.
HGNCHGNC:19711. DISP1.
HPAHPA051411.
MIM607502. gene.
neXtProtNX_Q96F81.
Orphanet93925. Alobar holoprosencephaly.
93924. Lobar holoprosencephaly.
280200. Microform holoprosencephaly.
93926. Midline interhemispheric variant of holoprosencephaly.
220386. Semilobar holoprosencephaly.
280195. Septopreoptic holoprosencephaly.
PharmGKBPA134938043.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG318867.
HOGENOMHOG000112218.
HOVERGENHBG101595.
InParanoidQ96F81.
OMAYLLNIFT.
OrthoDBEOG7DRJ26.
PhylomeDBQ96F81.
TreeFamTF324144.

Enzyme and pathway databases

SignaLinkQ96F81.

Gene expression databases

ArrayExpressQ96F81.
BgeeQ96F81.
CleanExHS_DISP1.
GenevestigatorQ96F81.

Family and domain databases

InterProIPR003392. Patched.
IPR000731. SSD.
[Graphical view]
PfamPF02460. Patched. 2 hits.
[Graphical view]
PROSITEPS50156. SSD. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi84976.
NextBio75533.
PROQ96F81.
SOURCESearch...

Entry information

Entry nameDISP1_HUMAN
AccessionPrimary (citable) accession number: Q96F81
Secondary accession number(s): Q8N7C2 expand/collapse secondary AC list , Q96I92, Q9H698, Q9H8H9, Q9UFA2
Entry history
Integrated into UniProtKB/Swiss-Prot: November 13, 2007
Last sequence update: November 13, 2007
Last modified: July 9, 2014
This is version 88 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 1

Human chromosome 1: entries, gene names and cross-references to MIM