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Q96F81

- DISP1_HUMAN

UniProt

Q96F81 - DISP1_HUMAN

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Protein

Protein dispatched homolog 1

Gene

DISP1

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.By similarity

GO - Molecular functioni

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

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

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 1PRO_0000310693Add
BLAST

Amino acid modifications

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

Keywords - PTMi

Glycoprotein

Proteomic databases

MaxQBiQ96F81.
PaxDbiQ96F81.
PRIDEiQ96F81.

PTM databases

PhosphoSiteiQ96F81.

Expressioni

Gene expression databases

BgeeiQ96F81.
CleanExiHS_DISP1.
GenevestigatoriQ96F81.

Organism-specific databases

HPAiHPA051411.

Interactioni

Protein-protein interaction databases

BioGridi124405. 1 interaction.
STRINGi9606.ENSP00000284476.

Structurei

3D structure databases

ProteinModelPortaliQ96F81.
ModBaseiSearch...
MobiDBiSearch...

Transmembrane

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

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini486 – 658173SSDPROSITE-ProRule annotationAdd
BLAST

Sequence similaritiesi

Belongs to the dispatched family.Curated
Contains 1 SSD (sterol-sensing) domain.PROSITE-ProRule annotation

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG318867.
GeneTreeiENSGT00530000063208.
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

        10         20         30         40         50
MAMSNGNNDF VVLSNSSIAT SAANPSPLTP CDGDHAAQQL TPKEATRTKV
60 70 80 90 100
SPNGCLQLNG TVKSSFLPLD NQRMPQMLPQ CCHPCPYHHP LTSHSSHQEC
110 120 130 140 150
HPEAGPAAPS ALASCCMQPH SEYSASLCPN HSPVYQTTCC LQPSPSFCLH
160 170 180 190 200
HPWPDHFQHQ PVQQHIANIR PSRPFKLPKS YAALIADWPV VVLGMCTMFI
210 220 230 240 250
VVCALVGVLV PELPDFSDPL LGFEPRGTAI GQRLVTWNNM VKNTGYKATL
260 270 280 290 300
ANYPFKYADE QAKSHRDDRW SDDHYEREKR EVDWNFHKDS FFCDVPSDRY
310 320 330 340 350
SRVVFTSSGG ETLWNLPAIK SMCNVDNSRI RSHPQFGDLC QRTTAASCCP
360 370 380 390 400
SWTLGNYIAI LNNRSSCQKI VERDVSHTLK LLRTCAKHYQ NGTLGPDCWD
410 420 430 440 450
MAARRKDQLK CTNVPRKCTK YNAVYQILHY LVDKDFMTPK TADYATPALK
460 470 480 490 500
YSMLFSPTEK GESMMNIYLD NFENWNSSDG VTTITGIEFG IKHSLFQDYL
510 520 530 540 550
LMDTVYPAIA IVIVLLVMCV YTKSMFITLM TMFAIISSLI VSYFLYRVVF
560 570 580 590 600
HFEFFPFMNL TALIILVGIG ADDAFVLCDV WNYTKFDKPH AETSETVSIT
610 620 630 640 650
LQHAALSMFV TSFTTAAAFY ANYVSNITAI RCFGVYAGTA ILVNYVLMVT
660 670 680 690 700
WLPAVVVLHE RYLLNIFTCF KKPQQQIYDN KSCWTVACQK CHKVLFAISE
710 720 730 740 750
ASRIFFEKVL PCIVIKFRYL WLFWFLALTV GGAYIVCINP KMKLPSLELS
760 770 780 790 800
EFQVFRSSHP FERYDAEYKK LFMFERVHHG EELHMPITVI WGVSPEDNGN
810 820 830 840 850
PLNPKSKGKL TLDSSFNIAS PASQAWILHF CQKLRNQTFF YQTDEQDFTS
860 870 880 890 900
CFIETFKQWM ENQDCDEPAL YPCCSHWSFP YKQEIFELCI KRAIMELERS
910 920 930 940 950
TGYHLDSKTP GPRFDINDTI RAVVLEFQST YLFTLAYEKM HQFYKEVDSW
960 970 980 990 1000
ISSELSSAPE GLSNGWFVSN LEFYDLQDSL SDGTLIAMGL SVAVAFSVML
1010 1020 1030 1040 1050
LTTWNIIISL YAIISIAGTI FVTVGSLVLL GWELNVLESV TISVAVGLSV
1060 1070 1080 1090 1100
DFAVHYGVAY RLAPDPDREG KVIFSLSRVG SAMAMAALTT FVAGAMMMPS
1110 1120 1130 1140 1150
TVLAYTQLGT FMMLIMCISW AFATFFFQCM CRCLGPQGTC GQIPLPKKLQ
1160 1170 1180 1190 1200
CSAFSHALST SPSDKGQSKT HTINAYHLDP RGPKSELEHE FYELEPLASH
1210 1220 1230 1240 1250
SCTAPEKTTY EETHICSEFF NSQAKNLGMP VHAAYNSELS KSTESDAGSA
1260 1270 1280 1290 1300
LLQPPLEQHT VCHFFSLNQR CSCPDAYKHL NYGPHSCQQM GDCLCHQCSP
1310 1320 1330 1340 1350
TTSSFVQIQN GVAPLKATHQ AVEGFVHPIT HIHHCPCLQG RVKPAGMQNS
1360 1370 1380 1390 1400
LPRNFFLHPV QHIQAQEKIG KTNVHSLQRS IEEHLPKMAE PSSFVCRSTG
1410 1420 1430 1440 1450
SLLKTCCDPE NKQRELCKNR DVSNLESSGG TENKAGGKVE LSLSQTDASV
1460 1470 1480 1490 1500
NSEHFNQNEP KVLFNHLMGE AGCRSCPNNS QSCGRIVRVK CNSVDCQMPN
1510 1520
MEANVPAVLT HSELSGESLL IKTL
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.

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti195 – 1951M → I in BAC05373. (PubMed:14702039)Curated
Sequence conflicti1247 – 12471A → T in CAB61406. (PubMed:17974005)Curated
Sequence conflicti1379 – 13791R → G in BAB14637. (PubMed:14702039)Curated
Sequence conflicti1392 – 13921S → V in BAB14637. (PubMed:14702039)Curated
Sequence conflicti1408 – 14081D → N in AAH11542. (PubMed:15489334)Curated

Natural variant

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

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...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 124405. 1 interaction.
STRINGi 9606.ENSP00000284476.

PTM databases

PhosphoSitei Q96F81.

Polymorphism databases

DMDMi 160380707.

Proteomic databases

MaxQBi Q96F81.
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-InvDB 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.
GeneTreei ENSGT00530000063208.
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

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: October 29, 2014
This is version 90 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