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Q96F81

- DISP1_HUMAN

UniProt

Q96F81 - DISP1_HUMAN

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Protein
Protein dispatched homolog 1
Gene
DISP1, DISPA
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5 - Experimental evidence at transcript leveli

Functioni

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.

GO - Molecular functioni

  1. hedgehog receptor activity Source: InterPro
  2. peptide transporter activity Source: UniProtKB
Complete GO annotation...

GO - Biological processi

  1. determination of left/right symmetry Source: Ensembl
  2. diaphragm development Source: UniProtKB
  3. dorsal/ventral pattern formation Source: Ensembl
  4. embryonic pattern specification Source: Ensembl
  5. patched ligand maturation Source: Ensembl
  6. peptide transport Source: UniProtKB
  7. protein homotrimerization Source: UniProtKB
  8. regulation of protein secretion Source: UniProtKB
  9. smoothened signaling pathway Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Enzyme and pathway databases

SignaLinkiQ96F81.

Names & Taxonomyi

Protein namesi
Recommended name:
Protein dispatched homolog 1
Gene namesi
Name:DISP1
Synonyms:DISPA
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 1

Organism-specific databases

HGNCiHGNC:19711. DISP1.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei190 – 21021Helical; Reviewed prediction
Add
BLAST
Transmembranei500 – 52021Helical; Reviewed prediction
Add
BLAST
Transmembranei525 – 54521Helical; Reviewed prediction
Add
BLAST
Transmembranei549 – 56921Helical; Reviewed prediction
Add
BLAST
Transmembranei604 – 62421Helical; Reviewed prediction
Add
BLAST
Transmembranei638 – 65821Helical; Reviewed prediction
Add
BLAST
Transmembranei719 – 73921Helical; Reviewed prediction
Add
BLAST
Transmembranei988 – 100821Helical; Reviewed prediction
Add
BLAST
Transmembranei1010 – 103021Helical; Reviewed prediction
Add
BLAST
Transmembranei1040 – 106021Helical; Reviewed prediction
Add
BLAST
Transmembranei1079 – 109921Helical; Reviewed prediction
Add
BLAST
Transmembranei1107 – 112721Helical; Reviewed prediction
Add
BLAST

GO - Cellular componenti

  1. basolateral plasma membrane Source: UniProtKB
  2. integral component of membrane Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

Orphaneti93925. Alobar holoprosencephaly.
93924. Lobar holoprosencephaly.
280200. Microform holoprosencephaly.
93926. Midline interhemispheric variant of holoprosencephaly.
220386. Semilobar holoprosencephaly.
280195. Septopreoptic holoprosencephaly.
PharmGKBiPA134938043.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 15241524Protein dispatched homolog 1
PRO_0000310693Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi59 – 591N-linked (GlcNAc...) Reviewed prediction
Glycosylationi582 – 5821N-linked (GlcNAc...) Reviewed prediction

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiQ96F81.
PRIDEiQ96F81.

PTM databases

PhosphoSiteiQ96F81.

Expressioni

Gene expression databases

ArrayExpressiQ96F81.
BgeeiQ96F81.
CleanExiHS_DISP1.
GenevestigatoriQ96F81.

Organism-specific databases

HPAiHPA051411.

Interactioni

Protein-protein interaction databases

BioGridi124405. 1 interaction.
STRINGi9606.ENSP00000284476.

Structurei

3D structure databases

ProteinModelPortaliQ96F81.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini486 – 658173SSD
Add
BLAST

Sequence similaritiesi

Belongs to the dispatched family.

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG318867.
HOGENOMiHOG000112218.
HOVERGENiHBG101595.
InParanoidiQ96F81.
OMAiYLLNIFT.
OrthoDBiEOG7DRJ26.
PhylomeDBiQ96F81.
TreeFamiTF324144.

Family and domain databases

InterProiIPR003392. Patched.
IPR000731. SSD.
[Graphical view]
PfamiPF02460. Patched. 2 hits.
[Graphical view]
PROSITEiPS50156. SSD. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q96F81-1 [UniParc]FASTAAdd to Basket

« Hide

MAMSNGNNDF VVLSNSSIAT SAANPSPLTP CDGDHAAQQL TPKEATRTKV     50
SPNGCLQLNG TVKSSFLPLD NQRMPQMLPQ CCHPCPYHHP LTSHSSHQEC 100
HPEAGPAAPS ALASCCMQPH SEYSASLCPN HSPVYQTTCC LQPSPSFCLH 150
HPWPDHFQHQ PVQQHIANIR PSRPFKLPKS YAALIADWPV VVLGMCTMFI 200
VVCALVGVLV PELPDFSDPL LGFEPRGTAI GQRLVTWNNM VKNTGYKATL 250
ANYPFKYADE QAKSHRDDRW SDDHYEREKR EVDWNFHKDS FFCDVPSDRY 300
SRVVFTSSGG ETLWNLPAIK SMCNVDNSRI RSHPQFGDLC QRTTAASCCP 350
SWTLGNYIAI LNNRSSCQKI VERDVSHTLK LLRTCAKHYQ NGTLGPDCWD 400
MAARRKDQLK CTNVPRKCTK YNAVYQILHY LVDKDFMTPK TADYATPALK 450
YSMLFSPTEK GESMMNIYLD NFENWNSSDG VTTITGIEFG IKHSLFQDYL 500
LMDTVYPAIA IVIVLLVMCV YTKSMFITLM TMFAIISSLI VSYFLYRVVF 550
HFEFFPFMNL TALIILVGIG ADDAFVLCDV WNYTKFDKPH AETSETVSIT 600
LQHAALSMFV TSFTTAAAFY ANYVSNITAI RCFGVYAGTA ILVNYVLMVT 650
WLPAVVVLHE RYLLNIFTCF KKPQQQIYDN KSCWTVACQK CHKVLFAISE 700
ASRIFFEKVL PCIVIKFRYL WLFWFLALTV GGAYIVCINP KMKLPSLELS 750
EFQVFRSSHP FERYDAEYKK LFMFERVHHG EELHMPITVI WGVSPEDNGN 800
PLNPKSKGKL TLDSSFNIAS PASQAWILHF CQKLRNQTFF YQTDEQDFTS 850
CFIETFKQWM ENQDCDEPAL YPCCSHWSFP YKQEIFELCI KRAIMELERS 900
TGYHLDSKTP GPRFDINDTI RAVVLEFQST YLFTLAYEKM HQFYKEVDSW 950
ISSELSSAPE GLSNGWFVSN LEFYDLQDSL SDGTLIAMGL SVAVAFSVML 1000
LTTWNIIISL YAIISIAGTI FVTVGSLVLL GWELNVLESV TISVAVGLSV 1050
DFAVHYGVAY RLAPDPDREG KVIFSLSRVG SAMAMAALTT FVAGAMMMPS 1100
TVLAYTQLGT FMMLIMCISW AFATFFFQCM CRCLGPQGTC GQIPLPKKLQ 1150
CSAFSHALST SPSDKGQSKT HTINAYHLDP RGPKSELEHE FYELEPLASH 1200
SCTAPEKTTY EETHICSEFF NSQAKNLGMP VHAAYNSELS KSTESDAGSA 1250
LLQPPLEQHT VCHFFSLNQR CSCPDAYKHL NYGPHSCQQM GDCLCHQCSP 1300
TTSSFVQIQN GVAPLKATHQ AVEGFVHPIT HIHHCPCLQG RVKPAGMQNS 1350
LPRNFFLHPV QHIQAQEKIG KTNVHSLQRS IEEHLPKMAE PSSFVCRSTG 1400
SLLKTCCDPE NKQRELCKNR DVSNLESSGG TENKAGGKVE LSLSQTDASV 1450
NSEHFNQNEP KVLFNHLMGE AGCRSCPNNS QSCGRIVRVK CNSVDCQMPN 1500
MEANVPAVLT HSELSGESLL IKTL 1524
Length:1,524
Mass (Da):170,934
Last modified:November 13, 2007 - v3
Checksum:i76399E8100DBC648
GO

Sequence cautioni

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.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti103 – 1031E → K.
Corresponds to variant rs2609383 [ dbSNP | Ensembl ].
VAR_037077

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti195 – 1951M → I in BAC05373. 1 Publication
Sequence conflicti1247 – 12471A → T in CAB61406. 1 Publication
Sequence conflicti1379 – 13791R → G in BAB14637. 1 Publication
Sequence conflicti1392 – 13921S → V in BAB14637. 1 Publication
Sequence conflicti1408 – 14081D → N in AAH11542. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSiCCDS1536.1.
PIRiT42693.
RefSeqiNP_116279.2. NM_032890.3.
XP_005273392.1. XM_005273335.1.
XP_006711655.1. XM_006711592.1.
XP_006711656.1. XM_006711593.1.
UniGeneiHs.528817.
Hs.692324.

Genome annotation databases

EnsembliENST00000284476; ENSP00000284476; ENSG00000154309.
GeneIDi84976.
KEGGihsa:84976.
UCSCiuc001hnu.2. human.

Polymorphism databases

DMDMi160380707.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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 .
CCDSi CCDS1536.1.
PIRi T42693.
RefSeqi NP_116279.2. NM_032890.3.
XP_005273392.1. XM_005273335.1.
XP_006711655.1. XM_006711592.1.
XP_006711656.1. XM_006711593.1.
UniGenei Hs.528817.
Hs.692324.

3D structure databases

ProteinModelPortali Q96F81.
ModBasei Search...

Protein-protein interaction databases

BioGridi 124405. 1 interaction.
STRINGi 9606.ENSP00000284476.

PTM databases

PhosphoSitei Q96F81.

Polymorphism databases

DMDMi 160380707.

Proteomic databases

PaxDbi Q96F81.
PRIDEi Q96F81.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000284476 ; ENSP00000284476 ; ENSG00000154309 .
GeneIDi 84976.
KEGGi hsa:84976.
UCSCi uc001hnu.2. human.

Organism-specific databases

CTDi 84976.
GeneCardsi GC01P222989.
H-InvDBi HIX0001620.
HGNCi HGNC:19711. DISP1.
HPAi HPA051411.
MIMi 607502. gene.
neXtProti NX_Q96F81.
Orphaneti 93925. Alobar holoprosencephaly.
93924. Lobar holoprosencephaly.
280200. Microform holoprosencephaly.
93926. Midline interhemispheric variant of holoprosencephaly.
220386. Semilobar holoprosencephaly.
280195. Septopreoptic holoprosencephaly.
PharmGKBi PA134938043.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG318867.
HOGENOMi HOG000112218.
HOVERGENi HBG101595.
InParanoidi Q96F81.
OMAi YLLNIFT.
OrthoDBi EOG7DRJ26.
PhylomeDBi Q96F81.
TreeFami TF324144.

Enzyme and pathway databases

SignaLinki Q96F81.

Miscellaneous databases

GenomeRNAii 84976.
NextBioi 75533.
PROi Q96F81.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q96F81.
Bgeei Q96F81.
CleanExi HS_DISP1.
Genevestigatori Q96F81.

Family and domain databases

InterProi IPR003392. Patched.
IPR000731. SSD.
[Graphical view ]
Pfami PF02460. Patched. 2 hits.
[Graphical view ]
PROSITEi PS50156. SSD. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

  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.
    , 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. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 768-1524.
    Tissue: Testis.

Entry informationi

Entry nameiDISP1_HUMAN
AccessioniPrimary (citable) accession number: Q96F81
Secondary accession number(s): Q8N7C2
, Q96I92, Q9H698, Q9H8H9, Q9UFA2
Entry historyi
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 statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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