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Protein

Hedgehog-interacting protein

Gene

HHIP

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Modulates hedgehog signaling in several cell types including brain and lung through direct interaction with members of the hedgehog family.2 Publications

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the ‘Description’ field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi383Zinc; shared with SHH1

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

  • catalytic activity Source: InterPro
  • hedgehog family protein binding Source: BHF-UCL
  • zinc ion binding Source: UniProtKB

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

LigandMetal-binding, Zinc

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-5632681 Ligand-receptor interactions

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...
SignaLinki
Q96QV1

SIGNOR Signaling Network Open Resource

More...
SIGNORi
Q96QV1

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Hedgehog-interacting protein
Short name:
HHIP
Short name:
HIP
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:HHIP
Synonyms:HIP
ORF Names:UNQ5825/PRO19644
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 4

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000164161.9

Human Gene Nomenclature Database

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HGNCi
HGNC:14866 HHIP

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
606178 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q96QV1

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell membrane, Cytoplasm, Membrane, Secreted

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi380E → A: Abolishes SHH binding. 1 Publication1
Mutagenesisi382M → A: Abolishes SHH binding. 1 Publication1
Mutagenesisi383D → A or R: Abolishes SHH binding. 2 Publications1
Mutagenesisi387D → A: Abolishes SHH binding. 1 Publication1

Organism-specific databases

DisGeNET

More...
DisGeNETi
64399
MIMi612224 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000164161

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA29276

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
HHIP

Domain mapping of disease mutations (DMDM)

More...
DMDMi
118572655

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 17Sequence analysisAdd BLAST17
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000000762318 – 700Hedgehog-interacting proteinAdd BLAST683

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi99N-linked (GlcNAc...) asparagineSequence analysis1
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi216 ↔ 536
Disulfide bondi218 ↔ 543
Disulfide bondi402 ↔ 624
Glycosylationi416N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi435 ↔ 452
Glycosylationi447N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi459N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi500 ↔ 594
Disulfide bondi608 ↔ 617
Disulfide bondi612 ↔ 623
Disulfide bondi625 ↔ 634
Disulfide bondi639 ↔ 649
Disulfide bondi643 ↔ 655
Disulfide bondi657 ↔ 666

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q96QV1

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
Q96QV1

PeptideAtlas

More...
PeptideAtlasi
Q96QV1

PRoteomics IDEntifications database

More...
PRIDEi
Q96QV1

ProteomicsDB human proteome resource

More...
ProteomicsDBi
77909
77910 [Q96QV1-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q96QV1

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q96QV1

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Widely expressed in fetal and adult tissues. Highest expression in adult heart, liver and pancreas, and in fetal kidney.2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000164161 Expressed in 149 organ(s), highest expression level in corpus callosum

CleanEx database of gene expression profiles

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CleanExi
HS_HHIP

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q96QV1 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA012616

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with all three hedgehog family members, SHH, IHH and DHH.3 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
122156, 1 interactor

Database of interacting proteins

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DIPi
DIP-48536N

Protein interaction database and analysis system

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IntActi
Q96QV1, 6 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000296575

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1700
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
Q96QV1

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q96QV1

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

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EvolutionaryTracei
Q96QV1

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini607 – 634EGF-like 1PROSITE-ProRule annotationAdd BLAST28
Domaini635 – 667EGF-like 2PROSITE-ProRule annotationAdd BLAST33

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni376 – 388Interaction with SHH zinc binding siteAdd BLAST13

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi35 – 54Arg-richAdd BLAST20

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

A flexible loop interacts with the SHH zinc binding site and contributes to zinc binding.

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the HHIP family.Curated

Keywords - Domaini

EGF-like domain, Repeat, Signal

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410IEIH Eukaryota
ENOG410ZT1I LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000158660

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000008644

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG051901

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q96QV1

KEGG Orthology (KO)

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KOi
K06231

Identification of Orthologs from Complete Genome Data

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OMAi
FYYTCRG

Database of Orthologous Groups

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OrthoDBi
EOG091G01D0

Database for complete collections of gene phylogenies

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PhylomeDBi
Q96QV1

TreeFam database of animal gene trees

More...
TreeFami
TF329059

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
2.120.10.30, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR011042 6-blade_b-propeller_TolB-like
IPR013032 EGF-like_CS
IPR000742 EGF-like_dom
IPR018143 Folate_rcpt-like
IPR012938 Glc/Sorbosone_DH
IPR011041 Quinoprot_gluc/sorb_DH

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF03024 Folate_rec, 1 hit
PF07995 GSDH, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00181 EGF, 2 hits

Superfamily database of structural and functional annotation

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SUPFAMi
SSF50952 SSF50952, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00022 EGF_1, 2 hits
PS01186 EGF_2, 2 hits
PS50026 EGF_3, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket
Isoform 1 (identifier: Q96QV1-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MLKMLSFKLL LLAVALGFFE GDAKFGERNE GSGARRRRCL NGNPPKRLKR
60 70 80 90 100
RDRRMMSQLE LLSGGEMLCG GFYPRLSCCL RSDSPGLGRL ENKIFSVTNN
110 120 130 140 150
TECGKLLEEI KCALCSPHSQ SLFHSPEREV LERDLVLPLL CKDYCKEFFY
160 170 180 190 200
TCRGHIPGFL QTTADEFCFY YARKDGGLCF PDFPRKQVRG PASNYLDQME
210 220 230 240 250
EYDKVEEISR KHKHNCFCIQ EVVSGLRQPV GALHSGDGSQ RLFILEKEGY
260 270 280 290 300
VKILTPEGEI FKEPYLDIHK LVQSGIKGGD ERGLLSLAFH PNYKKNGKLY
310 320 330 340 350
VSYTTNQERW AIGPHDHILR VVEYTVSRKN PHQVDLRTAR VFLEVAELHR
360 370 380 390 400
KHLGGQLLFG PDGFLYIILG DGMITLDDME EMDGLSDFTG SVLRLDVDTD
410 420 430 440 450
MCNVPYSIPR SNPHFNSTNQ PPEVFAHGLH DPGRCAVDRH PTDININLTI
460 470 480 490 500
LCSDSNGKNR SSARILQIIK GKDYESEPSL LEFKPFSNGP LVGGFVYRGC
510 520 530 540 550
QSERLYGSYV FGDRNGNFLT LQQSPVTKQW QEKPLCLGTS GSCRGYFSGH
560 570 580 590 600
ILGFGEDELG EVYILSSSKS MTQTHNGKLY KIVDPKRPLM PEECRATVQP
610 620 630 640 650
AQTLTSECSR LCRNGYCTPT GKCCCSPGWE GDFCRTAKCE PACRHGGVCV
660 670 680 690 700
RPNKCLCKKG YLGPQCEQVD RNIRRVTRAG ILDQIIDMTS YLLDLTSYIV
Length:700
Mass (Da):78,851
Last modified:November 28, 2006 - v3
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iCC1CB3435E29303A
GO
Isoform 2 (identifier: Q96QV1-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     278-320: GGDERGLLSL...AIGPHDHILR → VGFLNFIYFC...NLAGENKGAT
     321-700: Missing.

Note: Potentially soluble form.
Show »
Length:320
Mass (Da):36,373
Checksum:i3AF86509A46A7676
GO

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence BAB14945 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti126P → L in BAC11154 (PubMed:14702039).Curated1
Sequence conflicti135L → I in AAG34731 (Ref. 1) Curated1
Sequence conflicti173R → G in BAC11154 (PubMed:14702039).Curated1

<p>This subsection of the ‘Sequence’ section provides information on polymorphic variants. If the variant is associated with a disease state, the description of the latter can be found in the <a href="http://www.uniprot.org/manual/involvement_in_disease">'Involvement in disease'</a> subsection.<p><a href='/help/polymorphism' target='_top'>More...</a></p>Polymorphismi

Genetic variations in HHIP define the stature quantitative trait locus 12 (STQTL12) [MIMi:612224]. Adult height is an easily observable and highly heritable complex continuous trait. Because of this, it is a model trait for studying genetic influence on quantitative traits.1 Publication

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_021518341V → I2 Publications1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_013192278 – 320GGDER…DHILR → VGFLNFIYFCAGYVNFILVL PSSLKVFLCNKRKNLAGENK GAT in isoform 2. 2 PublicationsAdd BLAST43
Alternative sequenceiVSP_013193321 – 700Missing in isoform 2. 2 PublicationsAdd BLAST380

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
AY009951 mRNA Translation: AAG34731.1
AF326471
, AF326459, AF326460, AF326462, AF326464, AF326466, AF326468, AF326470, AF326469, AF326467, AF326465, AF326463, AF326461 Genomic DNA Translation: AAK18182.1
AY009317 mRNA Translation: AAG35411.1
AY358747 mRNA Translation: AAQ89107.1
AK024645 mRNA Translation: BAB14945.1 Different initiation.
AK074711 mRNA Translation: BAC11154.1
AC098588 Genomic DNA No translation available.
BC009298 mRNA Translation: AAH09298.1
BC025311 mRNA Translation: AAH25311.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS3762.1 [Q96QV1-1]

NCBI Reference Sequences

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RefSeqi
NP_071920.1, NM_022475.2 [Q96QV1-1]

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.507991

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000296575; ENSP00000296575; ENSG00000164161 [Q96QV1-1]
ENST00000434550; ENSP00000408587; ENSG00000164161 [Q96QV1-2]

Database of genes from NCBI RefSeq genomes

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GeneIDi
64399

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:64399

UCSC genome browser

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UCSCi
uc003ijr.3 human [Q96QV1-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY009951 mRNA Translation: AAG34731.1
AF326471
, AF326459, AF326460, AF326462, AF326464, AF326466, AF326468, AF326470, AF326469, AF326467, AF326465, AF326463, AF326461 Genomic DNA Translation: AAK18182.1
AY009317 mRNA Translation: AAG35411.1
AY358747 mRNA Translation: AAQ89107.1
AK024645 mRNA Translation: BAB14945.1 Different initiation.
AK074711 mRNA Translation: BAC11154.1
AC098588 Genomic DNA No translation available.
BC009298 mRNA Translation: AAH09298.1
BC025311 mRNA Translation: AAH25311.1
CCDSiCCDS3762.1 [Q96QV1-1]
RefSeqiNP_071920.1, NM_022475.2 [Q96QV1-1]
UniGeneiHs.507991

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2WFTX-ray2.80A/B214-671[»]
2WFXX-ray3.20B214-670[»]
2WG3X-ray2.60C/D214-670[»]
2WG4X-ray3.15B214-670[»]
3HO3X-ray2.90A193-667[»]
3HO4X-ray3.10A/B193-667[»]
3HO5X-ray3.01A/B193-667[»]
ProteinModelPortaliQ96QV1
SMRiQ96QV1
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi122156, 1 interactor
DIPiDIP-48536N
IntActiQ96QV1, 6 interactors
STRINGi9606.ENSP00000296575

PTM databases

iPTMnetiQ96QV1
PhosphoSitePlusiQ96QV1

Polymorphism and mutation databases

BioMutaiHHIP
DMDMi118572655

Proteomic databases

EPDiQ96QV1
PaxDbiQ96QV1
PeptideAtlasiQ96QV1
PRIDEiQ96QV1
ProteomicsDBi77909
77910 [Q96QV1-2]

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
64399
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000296575; ENSP00000296575; ENSG00000164161 [Q96QV1-1]
ENST00000434550; ENSP00000408587; ENSG00000164161 [Q96QV1-2]
GeneIDi64399
KEGGihsa:64399
UCSCiuc003ijr.3 human [Q96QV1-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
64399
DisGeNETi64399
EuPathDBiHostDB:ENSG00000164161.9

GeneCards: human genes, protein and diseases

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GeneCardsi
HHIP
HGNCiHGNC:14866 HHIP
HPAiHPA012616
MIMi606178 gene
612224 phenotype
neXtProtiNX_Q96QV1
OpenTargetsiENSG00000164161
PharmGKBiPA29276

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiENOG410IEIH Eukaryota
ENOG410ZT1I LUCA
GeneTreeiENSGT00940000158660
HOGENOMiHOG000008644
HOVERGENiHBG051901
InParanoidiQ96QV1
KOiK06231
OMAiFYYTCRG
OrthoDBiEOG091G01D0
PhylomeDBiQ96QV1
TreeFamiTF329059

Enzyme and pathway databases

ReactomeiR-HSA-5632681 Ligand-receptor interactions
SignaLinkiQ96QV1
SIGNORiQ96QV1

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
HHIP human
EvolutionaryTraceiQ96QV1

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
HHIP

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
64399

Protein Ontology

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PROi
PR:Q96QV1

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
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Gene expression databases

BgeeiENSG00000164161 Expressed in 149 organ(s), highest expression level in corpus callosum
CleanExiHS_HHIP
GenevisibleiQ96QV1 HS

Family and domain databases

Gene3Di2.120.10.30, 1 hit
InterProiView protein in InterPro
IPR011042 6-blade_b-propeller_TolB-like
IPR013032 EGF-like_CS
IPR000742 EGF-like_dom
IPR018143 Folate_rcpt-like
IPR012938 Glc/Sorbosone_DH
IPR011041 Quinoprot_gluc/sorb_DH
PfamiView protein in Pfam
PF03024 Folate_rec, 1 hit
PF07995 GSDH, 1 hit
SMARTiView protein in SMART
SM00181 EGF, 2 hits
SUPFAMiSSF50952 SSF50952, 1 hit
PROSITEiView protein in PROSITE
PS00022 EGF_1, 2 hits
PS01186 EGF_2, 2 hits
PS50026 EGF_3, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiHHIP_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q96QV1
Secondary accession number(s): Q6PK09
, Q8NCI7, Q9BXK3, Q9H1J4, Q9H7E7
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 12, 2005
Last sequence update: November 28, 2006
Last modified: December 5, 2018
This is version 141 of the entry and version 3 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

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