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UniProtKB/Swiss-Prot entry Q96QV1


[Entry info] [Name and origin] [References] [Comments] [Cross-references] [Keywords] [Features] [Sequence] [Tools]

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Entry information
Entry name HHIP_HUMAN
Primary accession number Q96QV1
Secondary accession numbers Q6PK09 Q8NCI7 Q9BXK3 Q9H1J4 Q9H7E7
Integrated into Swiss-Prot on April 12, 2005
Sequence was last modified on November 28, 2006 (Sequence version 3)
Annotations were last modified on    February 26, 2008 (Entry version 48)
Name and origin of the protein
Protein name Hedgehog-interacting protein [Precursor]
Synonyms HHIP
HIP
Gene name
Name: HHIP
Synonyms: HIP
ORFNames: UNQ5825/PRO19644
From
Homo sapiens (Human) [TaxID: 9606] 
Taxonomy Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.
Protein existence 2: Evidence at transcript level;
References
[1]
NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1), VARIANT ILE-341, AND TISSUE SPECIFICITY.
TISSUE=Fetal brain;
Huo L., Roessler E., Dutra A., Chuang P.-T., McMahon A.P., Muenke M.;
"Determination of the chromosomal location and genomic structure of the Hedgehog-interacting protein gene, and analysis of its role in holoprosencephaly.";
Gene Funct. Dis. 1:119-127(2000).
[2]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), AND TISSUE SPECIFICITY.
TISSUE=Testis;
PubMed=11435703 [NCBI, ExPASy, EBI, Israel, Japan]
Bak M., Hansen C., Friis Henriksen K., Tommerup N.;
"The human hedgehog-interacting protein gene: structure and chromosome mapping to 4q31.21-->q31.3.";
Cytogenet. Cell Genet. 92:300-303(2001).
[3]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
DOI=10.1101/gr.1293003; PubMed=12975309 [NCBI, ExPASy, EBI, Israel, Japan]
Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J., Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P., Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E., Heldens S., Huang A., Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D., Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L., Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C., Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J., Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M.;
"The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment.";
Genome Res. 13:2265-2270(2003).
[4]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), AND VARIANT ILE-341.
TISSUE=Coronary arterial endothelium, and Teratocarcinoma;
DOI=10.1038/ng1285; PubMed=14702039 [NCBI, ExPASy, EBI, Israel, Japan]
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.;
"Complete sequencing and characterization of 21,243 full-length human cDNAs.";
Nat. Genet. 36:40-45(2004).
[5]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
TISSUE=Muscle;
DOI=10.1101/gr.2596504; PubMed=15489334 [NCBI, ExPASy, EBI, Israel, Japan]
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
Comments
Copyright
Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms. Distributed under the Creative Commons Attribution-NoDerivs License.
Cross-references
Sequence databases
EMBL
AY009951; AAG34731.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF326471; AAK18182.1; -; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF326459; AAK18182.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF326460; AAK18182.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF326462; AAK18182.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF326464; AAK18182.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF326466; AAK18182.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF326468; AAK18182.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF326470; AAK18182.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF326469; AAK18182.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF326467; AAK18182.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF326465; AAK18182.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF326463; AAK18182.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF326461; AAK18182.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AY009317; AAG35411.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AY358747; AAQ89107.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AK024645; BAB14945.1; ALT_INIT; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AK074711; BAC11154.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
BC009298; AAH09298.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
BC025311; AAH25311.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
RefSeq NP_071920.1; -.
UniGene Hs.507991
3D structure databases
ModBase Q96QV1.
PTM databases
PhosphoSite Q96QV1; -.
Organism-specific databases
HGNC HGNC:14866; HHIP.
GeneLynx HHIP; Homo sapiens.
GenAtlas HHIP.
MIM 606178; gene. [NCBI / EBI]
PharmGKB PA29276; -.
GeneCards Q96QV1.
Gene expression databases
ArrayExpress Q96QV1; -.
CleanEx HS_HHIP; -.
GermOnline ENSG00000164161; Homo sapiens.
Family and domain databases
InterPro IPR011042; 6-blade_b-propeller_TolB-like.
IPR006210; EGF.
IPR000742; EGF_3.
IPR013111; EGF_extracell.
IPR013032; EGF_like_reg_CS.
Graphical view of domain structure.
Gene3D G3DSA:2.120.10.30; 6-blade_b-propeller_TolB-like; 1.
Pfam PF07974; EGF_2; 1.
Pfam graphical view of domain structure.
SMART SM00181; EGF; 2.
SMART graphical view of domain structure.
PROSITE PS00022; EGF_1; 2.
PS01186; EGF_2; 2.
PS50026; EGF_3; 1.
PROSITE graphical view of domain structure (profiles).
BLOCKS Q96QV1.
Genome annotation databases
Ensembl ENSG00000164161; Homo sapiens. [Contig view]
GeneID 64399; -.
KEGG hsa:64399; -.
Other
SOURCE HHIP; Homo sapiens.
ProtoNet Q96QV1.
UniRef View cluster of proteins with at least 50% / 90% / 100% identity.
Keywords
Alternative splicing; Cytoplasm; EGF-like domain; Glycoprotein; Membrane; Polymorphism; Repeat; Secreted; Signal.
Features
SEVIEWER logo Feature table viewer FT aligner logo Feature aligner
KeyFrom   To Length Description FTId
SIGNAL   1    17  17     Potential. 
CHAIN   18   700  683     Hedgehog-interacting protein. PRO_0000007623
DOMAIN   607   634  28     EGF-like 1. 
DOMAIN   635   667  33     EGF-like 2. 
COMPBIAS   35    54  20     Arg-rich. 
CARBOHYD   99    99        N-linked (GlcNAc...) (Potential). 
CARBOHYD   416   416        N-linked (GlcNAc...) (Potential). 
CARBOHYD   447   447        N-linked (GlcNAc...) (Potential). 
CARBOHYD   459   459        N-linked (GlcNAc...) (Potential). 
DISULFID   608   623        By similarity. 
DISULFID   612   624        By similarity. 
DISULFID   625   634        By similarity. 
DISULFID   639   649        By similarity. 
DISULFID   643   655        By similarity. 
DISULFID   657   666        By similarity. 
VAR_SEQ   278   320        GGDERGLLSLAFHPNYKKNGKLYVSYTTNQERWAIGPH DHILR -> VGFLNFIYFCAGYVNFILVLPSSLKVFLCNKRKNLAGE NKGAT (in isoform 2). VSP_013192
VAR_SEQ   321   700        Missing (in isoform 2). VSP_013193
VARIANT   341   341  1     V -> I. VAR_021518 
CONFLICT   126   126        P -> L (in Ref. 4; BAC11154). 
CONFLICT   135   135        L -> I (in Ref. 1; AAG34731). 
CONFLICT   173   173        R -> G (in Ref. 4; BAC11154). 
Sequence information
Length: 700 AA [This is the length of the unprocessed precursor] Molecular weight: 78851 Da [This is the MW of the unprocessed precursor] CRC64: CC1CB3435E29303A [This is a checksum on the sequence]
        10         20         30         40         50         60 
MLKMLSFKLL LLAVALGFFE GDAKFGERNE GSGARRRRCL NGNPPKRLKR RDRRMMSQLE 

        70         80         90        100        110        120 
LLSGGEMLCG GFYPRLSCCL RSDSPGLGRL ENKIFSVTNN TECGKLLEEI KCALCSPHSQ 

       130        140        150        160        170        180 
SLFHSPEREV LERDLVLPLL CKDYCKEFFY TCRGHIPGFL QTTADEFCFY YARKDGGLCF 

       190        200        210        220        230        240 
PDFPRKQVRG PASNYLDQME EYDKVEEISR KHKHNCFCIQ EVVSGLRQPV GALHSGDGSQ 

       250        260        270        280        290        300 
RLFILEKEGY VKILTPEGEI FKEPYLDIHK LVQSGIKGGD ERGLLSLAFH PNYKKNGKLY 

       310        320        330        340        350        360 
VSYTTNQERW AIGPHDHILR VVEYTVSRKN PHQVDLRTAR VFLEVAELHR KHLGGQLLFG 

       370        380        390        400        410        420 
PDGFLYIILG DGMITLDDME EMDGLSDFTG SVLRLDVDTD MCNVPYSIPR SNPHFNSTNQ 

       430        440        450        460        470        480 
PPEVFAHGLH DPGRCAVDRH PTDININLTI LCSDSNGKNR SSARILQIIK GKDYESEPSL 

       490        500        510        520        530        540 
LEFKPFSNGP LVGGFVYRGC QSERLYGSYV FGDRNGNFLT LQQSPVTKQW QEKPLCLGTS 

       550        560        570        580        590        600 
GSCRGYFSGH ILGFGEDELG EVYILSSSKS MTQTHNGKLY KIVDPKRPLM PEECRATVQP 

       610        620        630        640        650        660 
AQTLTSECSR LCRNGYCTPT GKCCCSPGWE GDFCRTAKCE PACRHGGVCV RPNKCLCKKG 

       670        680        690        700 
YLGPQCEQVD RNIRRVTRAG ILDQIIDMTS YLLDLTSYIV 

Q96QV1 in FASTA format

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View entry in raw text format (no links)
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