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Protein

Huntingtin-interacting protein 1-related protein

Gene

HIP1R

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

Component of clathrin-coated pits and vesicles, that may link the endocytic machinery to the actin cytoskeleton. Binds 3-phosphoinositides (via ENTH domain). May act through the ENTH domain to promote cell survival by stabilizing receptor tyrosine kinases following ligand-induced endocytosis.2 Publications

<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

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

Molecular functionActin-binding
Biological processEndocytosis

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-432722 Golgi Associated Vesicle Biogenesis
R-HSA-8856828 Clathrin-mediated endocytosis

SIGNOR Signaling Network Open Resource

More...
SIGNORi
O75146

<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:
Huntingtin-interacting protein 1-related protein
Short name:
HIP1-related protein
Alternative name(s):
Huntingtin-interacting protein 12
Short name:
HIP-12
<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:HIP1R
Synonyms:HIP12, KIAA0655
<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 12

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000130787.13

Human Gene Nomenclature Database

More...
HGNCi
HGNC:18415 HIP1R

Online Mendelian Inheritance in Man (OMIM)

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MIMi
605613 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_O75146

<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

Cytoplasm, Cytoplasmic vesicle, Membrane

<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>Mutagenesisi867R → D: Reduced acting binding. 1 Publication1
Mutagenesisi871G → D: Reduced acting binding. 1 Publication1
Mutagenesisi875A → D: Reduced acting binding. 1 Publication1
Mutagenesisi922 – 924KVK → DDD: Strongly reduced actin binding. 1 Publication3

Organism-specific databases

DisGeNET

More...
DisGeNETi
9026

Open Targets

More...
OpenTargetsi
ENSG00000130787

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA128394543

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
HIP1R

<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 describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000839841 – 1068Huntingtin-interacting protein 1-related proteinAdd BLAST1068

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei1N-acetylmethionineCombined sources1
Modified residuei1017PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
O75146

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
O75146

MaxQB - The MaxQuant DataBase

More...
MaxQBi
O75146

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

More...
PaxDbi
O75146

PeptideAtlas

More...
PeptideAtlasi
O75146

PRoteomics IDEntifications database

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PRIDEi
O75146

ProteomicsDB human proteome resource

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ProteomicsDBi
49810

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
O75146

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

More...
PhosphoSitePlusi
O75146

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
O75146

<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

Brain, heart, kidney, pancreas, and liver, but not in lung or placenta.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000130787 Expressed in 209 organ(s), highest expression level in substantia nigra

CleanEx database of gene expression profiles

More...
CleanExi
HS_HIP1R

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
O75146 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
O75146 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
CAB017187
HPA038135
HPA038136

<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 actin. Does not interact with huntingtin (By similarity). Interacts with CLTB and HIP1. Homodimer. Homodimerization promotes actin binding.By similarity3 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

WithEntry#Exp.IntActNotes
itself2EBI-4402639,EBI-4402639

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
114493, 70 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
O75146

Database of interacting proteins

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DIPi
DIP-17042N

Protein interaction database and analysis system

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IntActi
O75146, 25 interactors

Molecular INTeraction database

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MINTi
O75146

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000253083

<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

11068
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

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
1R0DX-ray1.90A/B/D/E/F/G/H/I771-971[»]

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
O75146

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

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SMRi
O75146

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
O75146

<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>Domaini23 – 151ENTHPROSITE-ProRule annotationAdd BLAST129
Domaini771 – 1012I/LWEQPROSITE-ProRule annotationAdd BLAST242

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>Regioni867 – 924Important for actin bindingAdd BLAST58

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and domains’ section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili347 – 599Sequence analysisAdd BLAST253

<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

Binds F-actin via the talin-like I/LWEQ domain.

<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 SLA2 family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG0980 Eukaryota
ENOG410XRXQ LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000153594

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000020612

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG005968

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
O75146

KEGG Orthology (KO)

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KOi
K20040

Identification of Orthologs from Complete Genome Data

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OMAi
QYDRRVK

Database of Orthologous Groups

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OrthoDBi
104219at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
O75146

TreeFam database of animal gene trees

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TreeFami
TF316860

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
1.25.40.90, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR011417 ANTH_dom
IPR013809 ENTH
IPR008942 ENTH_VHS
IPR032422 HIP1_clath-bd
IPR030555 HIP1R
IPR035964 I/LWEQ_dom_sf
IPR002558 ILWEQ_dom
IPR030224 Sla2_fam

The PANTHER Classification System

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PANTHERi
PTHR10407 PTHR10407, 1 hit
PTHR10407:SF10 PTHR10407:SF10, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF07651 ANTH, 1 hit
PF16515 HIP1_clath_bdg, 1 hit
PF01608 I_LWEQ, 1 hit

ProDom; a protein domain database

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ProDomi
View protein in ProDom or Entries sharing at least one domain
PD011820 ILWEQ, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00273 ENTH, 1 hit
SM00307 ILWEQ, 1 hit

Superfamily database of structural and functional annotation

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SUPFAMi
SSF109885 SSF109885, 1 hit
SSF48464 SSF48464, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50942 ENTH, 1 hit
PS50945 I_LWEQ, 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.

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

This entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 1 (identifier: O75146-1) [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
MNSIKNVPAR VLSRRPGHSL EAEREQFDKT QAISISKAIN TQEAPVKEKH
60 70 80 90 100
ARRIILGTHH EKGAFTFWSY AIGLPLPSSS ILSWKFCHVL HKVLRDGHPN
110 120 130 140 150
VLHDCQRYRS NIREIGDLWG HLHDRYGQLV NVYTKLLLTK ISFHLKHPQF
160 170 180 190 200
PAGLEVTDEV LEKAAGTDVN NIFQLTVEMF DYMDCELKLS ESVFRQLNTA
210 220 230 240 250
IAVSQMSSGQ CRLAPLIQVI QDCSHLYHYT VKLLFKLHSC LPADTLQGHR
260 270 280 290 300
DRFHEQFHSL RNFFRRASDM LYFKRLIQIP RLPEGPPNFL RASALAEHIK
310 320 330 340 350
PVVVIPEEAP EDEEPENLIE ISTGPPAGEP VVVADLFDQT FGPPNGSVKD
360 370 380 390 400
DRDLQIESLK REVEMLRSEL EKIKLEAQRY IAQLKSQVNA LEGELEEQRK
410 420 430 440 450
QKQKALVDNE QLRHELAQLR AAQLEGERSQ GLREEAERKA SATEARYNKL
460 470 480 490 500
KEKHSELVHV HAELLRKNAD TAKQLTVTQQ SQEEVARVKE QLAFQVEQVK
510 520 530 540 550
RESELKLEEK SDQLEKLKRE LEAKAGELAR AQEALSHTEQ SKSELSSRLD
560 570 580 590 600
TLSAEKDALS GAVRQREADL LAAQSLVRET EAALSREQQR SSQEQGELQG
610 620 630 640 650
RLAERESQEQ GLRQRLLDEQ FAVLRGAAAE AAGILQDAVS KLDDPLHLRC
660 670 680 690 700
TSSPDYLVSR AQEALDAVST LEEGHAQYLT SLADASALVA ALTRFSHLAA
710 720 730 740 750
DTIINGGATS HLAPTDPADR LIDTCRECGA RALELMGQLQ DQQALRHMQA
760 770 780 790 800
SLVRTPLQGI LQLGQELKPK SLDVRQEELG AVVDKEMAAT SAAIEDAVRR
810 820 830 840 850
IEDMMNQARH ASSGVKLEVN ERILNSCTDL MKAIRLLVTT STSLQKEIVE
860 870 880 890 900
SGRGAATQQE FYAKNSRWTE GLISASKAVG WGATQLVEAA DKVVLHTGKY
910 920 930 940 950
EELIVCSHEI AASTAQLVAA SKVKANKHSP HLSRLQECSR TVNERAANVV
960 970 980 990 1000
ASTKSGQEQI EDRDTMDFSG LSLIKLKKQE METQVRVLEL EKTLEAERMR
1010 1020 1030 1040 1050
LGELRKQHYV LAGASGSPGE EVAIRPSTAP RSVTTKKPPL AQKPSVAPRQ
1060
DHQLDKKDGI YPAQLVNY
Length:1,068
Mass (Da):119,388
Last modified:April 27, 2001 - v2
<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:i3CBC7CF1191BFF8F
GO
Isoform 2 (identifier: O75146-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     606-615: ESQEQGLRQR → VWPPQMQQHH
     616-1068: Missing.

Note: No experimental confirmation available.
Show »
Length:615
Mass (Da):70,288
Checksum:i8C8EA2E9117EE27E
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0YH66H0YH66_HUMAN
Huntingtin-interacting protein 1-re...
HIP1R
197Annotation score:

Annotation score:2 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>

<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 BAA31630 differs from that shown. Reason: Erroneous initiation.Curated

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_070814345N → S1 PublicationCorresponds to variant dbSNP:rs149504879Ensembl.1
Natural variantiVAR_051029404K → Q. Corresponds to variant dbSNP:rs7972242Ensembl.1
Natural variantiVAR_051030516K → Q. Corresponds to variant dbSNP:rs7972242Ensembl.1
Natural variantiVAR_020043782V → M. Corresponds to variant dbSNP:rs2271051Ensembl.1
Natural variantiVAR_051031943N → S. Corresponds to variant dbSNP:rs3736414Ensembl.1

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_054238606 – 615ESQEQGLRQR → VWPPQMQQHH in isoform 2. 1 Publication10
Alternative sequenceiVSP_054239616 – 1068Missing in isoform 2. 1 PublicationAdd BLAST453

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

More...
DDBJi
Links Updated
AB014555 mRNA Translation: BAA31630.1 Different initiation.
AC027290 Genomic DNA No translation available.
BC067085 mRNA Translation: AAH67085.1
AB013384 mRNA Translation: BAA33713.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS31922.1 [O75146-1]

NCBI Reference Sequences

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RefSeqi
NP_001290026.1, NM_001303097.1 [O75146-2]
NP_003950.1, NM_003959.2 [O75146-1]

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.524815
Hs.714965

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000253083; ENSP00000253083; ENSG00000130787 [O75146-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
9026

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:9026

UCSC genome browser

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UCSCi
uc001udj.2 human [O75146-1]

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
AB014555 mRNA Translation: BAA31630.1 Different initiation.
AC027290 Genomic DNA No translation available.
BC067085 mRNA Translation: AAH67085.1
AB013384 mRNA Translation: BAA33713.1
CCDSiCCDS31922.1 [O75146-1]
RefSeqiNP_001290026.1, NM_001303097.1 [O75146-2]
NP_003950.1, NM_003959.2 [O75146-1]
UniGeneiHs.524815
Hs.714965

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1R0DX-ray1.90A/B/D/E/F/G/H/I771-971[»]
ProteinModelPortaliO75146
SMRiO75146
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi114493, 70 interactors
CORUMiO75146
DIPiDIP-17042N
IntActiO75146, 25 interactors
MINTiO75146
STRINGi9606.ENSP00000253083

PTM databases

iPTMnetiO75146
PhosphoSitePlusiO75146
SwissPalmiO75146

Polymorphism and mutation databases

BioMutaiHIP1R

Proteomic databases

EPDiO75146
jPOSTiO75146
MaxQBiO75146
PaxDbiO75146
PeptideAtlasiO75146
PRIDEiO75146
ProteomicsDBi49810

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000253083; ENSP00000253083; ENSG00000130787 [O75146-1]
GeneIDi9026
KEGGihsa:9026
UCSCiuc001udj.2 human [O75146-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
9026
DisGeNETi9026
EuPathDBiHostDB:ENSG00000130787.13

GeneCards: human genes, protein and diseases

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GeneCardsi
HIP1R
HGNCiHGNC:18415 HIP1R
HPAiCAB017187
HPA038135
HPA038136
MIMi605613 gene
neXtProtiNX_O75146
OpenTargetsiENSG00000130787
PharmGKBiPA128394543

Human Unidentified Gene-Encoded large proteins database

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HUGEi
Search...

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0980 Eukaryota
ENOG410XRXQ LUCA
GeneTreeiENSGT00940000153594
HOGENOMiHOG000020612
HOVERGENiHBG005968
InParanoidiO75146
KOiK20040
OMAiQYDRRVK
OrthoDBi104219at2759
PhylomeDBiO75146
TreeFamiTF316860

Enzyme and pathway databases

ReactomeiR-HSA-432722 Golgi Associated Vesicle Biogenesis
R-HSA-8856828 Clathrin-mediated endocytosis
SIGNORiO75146

Miscellaneous databases

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

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ChiTaRSi
HIP1R human
EvolutionaryTraceiO75146

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
HIP1R

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

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GenomeRNAii
9026

Protein Ontology

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PROi
PR:O75146

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000130787 Expressed in 209 organ(s), highest expression level in substantia nigra
CleanExiHS_HIP1R
ExpressionAtlasiO75146 baseline and differential
GenevisibleiO75146 HS

Family and domain databases

Gene3Di1.25.40.90, 1 hit
InterProiView protein in InterPro
IPR011417 ANTH_dom
IPR013809 ENTH
IPR008942 ENTH_VHS
IPR032422 HIP1_clath-bd
IPR030555 HIP1R
IPR035964 I/LWEQ_dom_sf
IPR002558 ILWEQ_dom
IPR030224 Sla2_fam
PANTHERiPTHR10407 PTHR10407, 1 hit
PTHR10407:SF10 PTHR10407:SF10, 1 hit
PfamiView protein in Pfam
PF07651 ANTH, 1 hit
PF16515 HIP1_clath_bdg, 1 hit
PF01608 I_LWEQ, 1 hit
ProDomiView protein in ProDom or Entries sharing at least one domain
PD011820 ILWEQ, 1 hit
SMARTiView protein in SMART
SM00273 ENTH, 1 hit
SM00307 ILWEQ, 1 hit
SUPFAMiSSF109885 SSF109885, 1 hit
SSF48464 SSF48464, 1 hit
PROSITEiView protein in PROSITE
PS50942 ENTH, 1 hit
PS50945 I_LWEQ, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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 nameiHIP1R_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: O75146
Secondary accession number(s): A6NHQ6, Q6NXG8, Q9UED9
<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 27, 2001
Last sequence update: April 27, 2001
Last modified: January 16, 2019
This is version 168 of the entry and version 2 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, Direct protein sequencing, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
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