Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

UniProtKB - Q96QV1 (HHIP_HUMAN)

Entry version 158 (02 Jun 2021)
Sequence version 3 (28 Nov 2006)
Previous versions | rss
Add a publicationFeedback
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 <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> 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

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<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

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q96QV1

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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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

Human Gene Nomenclature Database

More...HGNCi		HGNC:14866, HHIP

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		606178, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q96QV1

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000164161.9

<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

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%5Fand%5Fbiotech%5Fsection">'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

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q96QV1, Tbio

Genetic variation 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 or proteolytic cleavage.<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%5Fprocessing%5Fsection">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

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q96QV1

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

More...PaxDbi		Q96QV1

PeptideAtlas

More...PeptideAtlasi		Q96QV1

PRoteomics IDEntifications database

More...PRIDEi		Q96QV1

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		77909 [Q96QV1-1]
77910 [Q96QV1-2]

PTM databases

GlyGen: Computational and Informatics Resources for Glycoscience

More...GlyGeni		Q96QV1, 4 sites

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

More...Bgeei		ENSG00000164161, Expressed in corpus callosum and 172 other tissues

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q96QV1, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000164161, Tissue enhanced (brain, lung)

<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%5Fsection">'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%5Fsection">'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%5Fsection">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="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		122156, 1 interactor

Database of interacting proteins

More...DIPi		DIP-48536N

Protein interaction database and analysis system

More...IntActi		Q96QV1, 6 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000296575

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q96QV1, protein

<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

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

More...SMRi		Q96QV1

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...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%5Fand%5Fdomains%5Fsection">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

<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		KOG4295, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000158660

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_012344_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q96QV1

Identification of Orthologs from Complete Genome Data

More...OMAi		NCFCVQE

Database of Orthologous Groups

More...OrthoDBi		728630at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q96QV1

TreeFam database of animal gene trees

More...TreeFami		TF329059

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		2.120.10.30, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR011042, 6-blade_b-propeller_TolB-like
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

More...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%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<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%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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 <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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.Curated
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. Truncated N-terminus.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%5Fin%5Fdisease">'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.<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

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
AY009951 mRNA Translation: AAG34731.1
AF326471 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

More...CCDSi		CCDS3762.1 [Q96QV1-1]

NCBI Reference Sequences

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

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

More...GeneIDi		64399

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:64399

UCSC genome browser

More...UCSCi		uc003ijr.3, human [Q96QV1-1]

Keywords - Coding sequence diversityi

Alternative splicing

<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 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]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...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[»]
SMRiQ96QV1
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi122156, 1 interactor
DIPiDIP-48536N
IntActiQ96QV1, 6 interactors
STRINGi9606.ENSP00000296575

PTM databases

GlyGeniQ96QV1, 4 sites
iPTMnetiQ96QV1
PhosphoSitePlusiQ96QV1

Genetic variation databases

BioMutaiHHIP
DMDMi118572655

Proteomic databases

EPDiQ96QV1
MassIVEiQ96QV1
PaxDbiQ96QV1
PeptideAtlasiQ96QV1
PRIDEiQ96QV1
ProteomicsDBi77909 [Q96QV1-1]
77910 [Q96QV1-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		2783, 235 antibodies

The DNASU plasmid repository

More...DNASUi		64399

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

More...CTDi		64399
DisGeNETi64399

GeneCards: human genes, protein and diseases

More...GeneCardsi		HHIP
HGNCiHGNC:14866, HHIP
HPAiENSG00000164161, Tissue enhanced (brain, lung)
MIMi606178, gene
612224, phenotype
neXtProtiNX_Q96QV1
OpenTargetsiENSG00000164161
PharmGKBiPA29276
VEuPathDBiHostDB:ENSG00000164161.9

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG4295, Eukaryota
GeneTreeiENSGT00940000158660
HOGENOMiCLU_012344_0_0_1
InParanoidiQ96QV1
OMAiNCFCVQE
OrthoDBi728630at2759
PhylomeDBiQ96QV1
TreeFamiTF329059

Enzyme and pathway databases

PathwayCommonsiQ96QV1
ReactomeiR-HSA-5632681, Ligand-receptor interactions
SignaLinkiQ96QV1
SIGNORiQ96QV1

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		64399, 6 hits in 983 CRISPR screens

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

More...ChiTaRSi		HHIP, human
EvolutionaryTraceiQ96QV1

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		HHIP

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

More...GenomeRNAii		64399
PharosiQ96QV1, Tbio

Protein Ontology

More...PROi		PR:Q96QV1
RNActiQ96QV1, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000164161, Expressed in corpus callosum and 172 other tissues
GenevisibleiQ96QV1, HS

Family and domain databases

Gene3Di2.120.10.30, 1 hit
InterProiView protein in InterPro
IPR011042, 6-blade_b-propeller_TolB-like
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

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<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%5Fand%5Fisoforms">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: June 2, 2021
This is version 158 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, Reference proteome

Documents

  1. Human chromosome 4
    Human chromosome 4: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again