Skip Header

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

Huntingtin-interacting protein 1

Gene

HIP1

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

Plays a role in clathrin-mediated endocytosis and trafficking (PubMed:11532990, PubMed:11577110, PubMed:11889126). Involved in regulating AMPA receptor trafficking in the central nervous system in an NMDA-dependent manner (By similarity). Regulates presynaptic nerve terminal activity (By similarity). Enhances androgen receptor (AR)-mediated transcription (PubMed:16027218). May act as a proapoptotic protein that induces cell death by acting through the intrinsic apoptosis pathway (PubMed:11007801). Binds 3-phosphoinositides (via ENTH domain) (PubMed:14732715). May act through the ENTH domain to promote cell survival by stabilizing receptor tyrosine kinases following ligand-induced endocytosis (PubMed:14732715). May play a functional role in the cell filament networks (PubMed:18790740). May be required for differentiation, proliferation, and/or survival of somatic and germline progenitors (PubMed:11007801, PubMed:12163454).By similarity9 Publications

Miscellaneous

The affinity of the huntingtin protein-HIP1 interaction is inversely correlated to the length of the polyglutamine tract added to the huntingtin protein in Huntington disease.

<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, Activator
Biological processApoptosis, Differentiation, Endocytosis, Transcription, Transcription regulation

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-8856828 Clathrin-mediated endocytosis

SIGNOR Signaling Network Open Resource

More...
SIGNORi
O00291

Protein family/group databases

MoonDB Database of extreme multifunctional and moonlighting proteins

More...
MoonDBi
O00291 Curated

<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
Short name:
HIP-1
Alternative name(s):
Huntingtin-interacting protein I
Short name:
HIP-I
<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:HIP1
<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 7

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000127946.16

Human Gene Nomenclature Database

More...
HGNCi
HGNC:4913 HIP1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
601767 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_O00291

<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, Nucleus

<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

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

A chromosomal aberration involving HIP1 is found in a form of chronic myelomonocytic leukemia (CMML). Translocation t(5;7)(q33;q11.2) with PDGFRB (PubMed:9616134). The chimeric HIP1-PDGFRB transcript results from an in-frame fusion of the two genes (PubMed:9616134). The reciprocal PDGFRB-HIP1 transcript is not expressed (PubMed:9616134).1 Publication

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>Mutagenesisi56K → E: Abolishes 3-phosphoinositide-binding; when associated with E-58. 1 Publication1
Mutagenesisi58K → E: Abolishes 3-phosphoinositide-binding; when associated with E-56. 1 Publication1
Mutagenesisi432F → G: Abolishes HIP1-induced cell death. 1 Publication1
Mutagenesisi1005R → E: Reduces AR-induced nuclear translocation. 1 Publication1

Keywords - Diseasei

Neurodegeneration

Organism-specific databases

DisGeNET

More...
DisGeNETi
3092

MalaCards human disease database

More...
MalaCardsi
HIP1

Open Targets

More...
OpenTargetsi
ENSG00000127946

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA29289

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
HIP1

<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_00000839861 – 1037Huntingtin-interacting protein 1Add BLAST1037

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 residuei338PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
O00291

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

More...
PaxDbi
O00291

PeptideAtlas

More...
PeptideAtlasi
O00291

PRoteomics IDEntifications database

More...
PRIDEi
O00291

ProteomicsDB human proteome resource

More...
ProteomicsDBi
47823

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
O00291

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

More...
PhosphoSitePlusi
O00291

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
O00291

<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

Ubiquitously expressed with the highest level in brain. Expression is up-regulated in prostate and colon cancer.3 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000127946 Expressed in 220 organ(s), highest expression level in corpus callosum

CleanEx database of gene expression profiles

More...
CleanExi
HS_HIP1

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
O00291 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
O00291 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
CAB015334
CAB016402
HPA013606
HPA017964

<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

Homodimer. Binds actin. Binds HTT (via N-terminus). This interaction is restricted to the brain. Binds to IFT57. In normal conditions, it poorly interacts with IFT57, HIP1 being strongly associated with HTT. However, in mutant HTT proteins with a long poly-Gln region, interaction between HTT and HIP1 is inhibited, promoting the interaction between HIP1 and IFT57. Interacts with CLTB (via N-terminus). Interacts (via coiled coil domain) with AR. Interacts with AP2A1, AP2A2, CLTC and HIP1R. Interacts with GRIA1, GRIN2A AND GRIN2B.8 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)

More...
BioGridi
109339, 35 interactors

Database of interacting proteins

More...
DIPi
DIP-17041N

The Eukaryotic Linear Motif resource for Functional Sites in Proteins

More...
ELMi
O00291

Protein interaction database and analysis system

More...
IntActi
O00291, 37 interactors

Molecular INTeraction database

More...
MINTi
O00291

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000336747

<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

11037
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
O00291

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

More...
SMRi
O00291

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...
EvolutionaryTracei
O00291

<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>Domaini32 – 160ENTHPROSITE-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>Regioni410 – 491pDEDAdd BLAST82
Regioni867 – 924Important for actin bindingBy similarityAdd 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 coili368 – 644Sequence analysisAdd BLAST277

<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

The pseudo DED region (pDED) mediates the interaction with IFT57.1 Publication
Binds F-actin via the talin-like I/LWEQ domain.1 Publication

<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

More...
GeneTreei
ENSGT00940000153594

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000020612

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG005968

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
O00291

KEGG Orthology (KO)

More...
KOi
K04559

Identification of Orthologs from Complete Genome Data

More...
OMAi
QAQRKTQ

Database of Orthologous Groups

More...
OrthoDBi
EOG091G07Y5

Database for complete collections of gene phylogenies

More...
PhylomeDBi
O00291

TreeFam database of animal gene trees

More...
TreeFami
TF316860

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
1.25.40.90, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR011417 ANTH_dom
IPR013809 ENTH
IPR008942 ENTH_VHS
IPR030554 HIP1
IPR032422 HIP1_clath-bd
IPR035964 I/LWEQ_dom_sf
IPR002558 ILWEQ_dom
IPR030224 Sla2_fam

The PANTHER Classification System

More...
PANTHERi
PTHR10407 PTHR10407, 1 hit
PTHR10407:SF14 PTHR10407:SF14, 1 hit

Pfam protein domain database

More...
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

More...
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

More...
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 (4+)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 4 <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 4 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

Isoform HIP1-1 (identifier: O00291-1) [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
MDRMASSMKQ VPNPLPKVLS RRGVGAGLEA AERESFERTQ TVSINKAINT
60 70 80 90 100
QEVAVKEKHA RTCILGTHHE KGAQTFWSVV NRLPLSSNAV LCWKFCHVFH
110 120 130 140 150
KLLRDGHPNV LKDSLRYRNE LSDMSRMWGH LSEGYGQLCS IYLKLLRTKM
160 170 180 190 200
EYHTKNPRFP GNLQMSDRQL DEAGESDVNN FFQLTVEMFD YLECELNLFQ
210 220 230 240 250
TVFNSLDMSR SVSVTAAGQC RLAPLIQVIL DCSHLYDYTV KLLFKLHSCL
260 270 280 290 300
PADTLQGHRD RFMEQFTKLK DLFYRSSNLQ YFKRLIQIPQ LPENPPNFLR
310 320 330 340 350
ASALSEHISP VVVIPAEASS PDSEPVLEKD DLMDMDASQQ NLFDNKFDDI
360 370 380 390 400
FGSSFSSDPF NFNSQNGVNK DEKDHLIERL YREISGLKAQ LENMKTESQR
410 420 430 440 450
VVLQLKGHVS ELEADLAEQQ HLRQQAADDC EFLRAELDEL RRQREDTEKA
460 470 480 490 500
QRSLSEIERK AQANEQRYSK LKEKYSELVQ NHADLLRKNA EVTKQVSMAR
510 520 530 540 550
QAQVDLEREK KELEDSLERI SDQGQRKTQE QLEVLESLKQ ELATSQRELQ
560 570 580 590 600
VLQGSLETSA QSEANWAAEF AELEKERDSL VSGAAHREEE LSALRKELQD
610 620 630 640 650
TQLKLASTEE SMCQLAKDQR KMLLVGSRKA AEQVIQDALN QLEEPPLISC
660 670 680 690 700
AGSADHLLST VTSISSCIEQ LEKSWSQYLA CPEDISGLLH SITLLAHLTS
710 720 730 740 750
DAIAHGATTC LRAPPEPADS LTEACKQYGR ETLAYLASLE EEGSLENADS
760 770 780 790 800
TAMRNCLSKI KAIGEELLPR GLDIKQEELG DLVDKEMAAT SAAIETATAR
810 820 830 840 850
IEEMLSKSRA GDTGVKLEVN ERILGCCTSL MQAIQVLIVA SKDLQREIVE
860 870 880 890 900
SGRGTASPKE FYAKNSRWTE GLISASKAVG WGATVMVDAA DLVVQGRGKF
910 920 930 940 950
EELMVCSHEI AASTAQLVAA SKVKADKDSP NLAQLQQASR GVNQATAGVV
960 970 980 990 1000
ASTISGKSQI EETDNMDFSS MTLTQIKRQE MDSQVRVLEL ENELQKERQK
1010 1020 1030
LGELRKKHYE LAGVAEGWEE GTEASPPTLQ EVVTEKE
Length:1,037
Mass (Da):116,221
Last modified:September 23, 2008 - v5
<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:iF8C0369DBF0A836F
GO
Isoform HIP1-2 (identifier: O00291-2)
Sequence is not available
Length:
Mass (Da):
Isoform 3 (identifier: O00291-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     803-853: Missing.

Note: No experimental confirmation available.
Show »
Length:986
Mass (Da):110,663
Checksum:iC09BAD680242941A
GO
Isoform 4 (identifier: O00291-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-40: MDRMASSMKQVPNPLPKVLSRRGVGAGLEAAERESFERTQ → MMFPNPEPPPE

Show »
Length:1,008
Mass (Da):113,076
Checksum:i37DDE891F2F15C00
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
C9JMG5C9JMG5_HUMAN
Huntingtin-interacting protein 1
HIP1
146Annotation score:

Annotation score:1 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 AAC51257 differs from that shown. Reason: Erroneous initiation.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 conflicti89A → P in AAC33564 (PubMed:11788820).Curated1
Sequence conflicti245 – 251KLHSCLP → EFAAAST in CAA70574 (PubMed:9147654).Curated7
Sequence conflicti357S → R in BAG65499 (PubMed:14702039).Curated1
Sequence conflicti639 – 644LNQLEE → STRPRI in CAA70574 (PubMed:9147654).Curated6
Sequence conflicti688L → F in AAL87037 (PubMed:11788820).Curated1

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_051032263M → K. Corresponds to variant dbSNP:rs17149023Ensembl.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_0574001 – 40MDRMA…FERTQ → MMFPNPEPPPE in isoform 4. 1 PublicationAdd BLAST40
Alternative sequenceiVSP_044736803 – 853Missing in isoform 3. 1 PublicationAdd BLAST51

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
KF437291 mRNA Translation: AHA56631.1
AK304738 mRNA Translation: BAG65499.1
AC004491 Genomic DNA No translation available.
AC018720 Genomic DNA No translation available.
AC211429 Genomic DNA No translation available.
KF495977 Genomic DNA No translation available.
BC110545 mRNA Translation: AAI10546.1
AF365404 mRNA Translation: AAL87037.1
AH006397 Genomic DNA Translation: AAC33564.1
U79734 mRNA Translation: AAC51257.1 Different initiation.
Y09420 mRNA Translation: CAA70574.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS34669.1 [O00291-1]
CCDS59060.1 [O00291-3]

NCBI Reference Sequences

More...
RefSeqi
NP_001230127.1, NM_001243198.2 [O00291-3]
NP_005329.3, NM_005338.6 [O00291-1]
XP_005250361.1, XM_005250304.2 [O00291-4]
XP_011514418.1, XM_011516116.2 [O00291-1]

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.329266
Hs.619089
Hs.674397

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000336926; ENSP00000336747; ENSG00000127946 [O00291-1]
ENST00000434438; ENSP00000410300; ENSG00000127946 [O00291-3]
ENST00000616821; ENSP00000484528; ENSG00000127946 [O00291-4]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
3092

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:3092

UCSC genome browser

More...
UCSCi
uc003uds.4 human [O00291-1]
uc064emn.1 human

Keywords - Coding sequence diversityi

Alternative splicing, Chromosomal rearrangement, 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

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
KF437291 mRNA Translation: AHA56631.1
AK304738 mRNA Translation: BAG65499.1
AC004491 Genomic DNA No translation available.
AC018720 Genomic DNA No translation available.
AC211429 Genomic DNA No translation available.
KF495977 Genomic DNA No translation available.
BC110545 mRNA Translation: AAI10546.1
AF365404 mRNA Translation: AAL87037.1
AH006397 Genomic DNA Translation: AAC33564.1
U79734 mRNA Translation: AAC51257.1 Different initiation.
Y09420 mRNA Translation: CAA70574.1
CCDSiCCDS34669.1 [O00291-1]
CCDS59060.1 [O00291-3]
RefSeqiNP_001230127.1, NM_001243198.2 [O00291-3]
NP_005329.3, NM_005338.6 [O00291-1]
XP_005250361.1, XM_005250304.2 [O00291-4]
XP_011514418.1, XM_011516116.2 [O00291-1]
UniGeneiHs.329266
Hs.619089
Hs.674397

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
2NO2X-ray2.80A482-586[»]
2QA7X-ray2.80A/B/C/D370-481[»]
3I00X-ray2.30A/B361-480[»]
ProteinModelPortaliO00291
SMRiO00291
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi109339, 35 interactors
DIPiDIP-17041N
ELMiO00291
IntActiO00291, 37 interactors
MINTiO00291
STRINGi9606.ENSP00000336747

Protein family/group databases

MoonDBiO00291 Curated

PTM databases

iPTMnetiO00291
PhosphoSitePlusiO00291
SwissPalmiO00291

Polymorphism and mutation databases

BioMutaiHIP1

Proteomic databases

EPDiO00291
PaxDbiO00291
PeptideAtlasiO00291
PRIDEiO00291
ProteomicsDBi47823

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000336926; ENSP00000336747; ENSG00000127946 [O00291-1]
ENST00000434438; ENSP00000410300; ENSG00000127946 [O00291-3]
ENST00000616821; ENSP00000484528; ENSG00000127946 [O00291-4]
GeneIDi3092
KEGGihsa:3092
UCSCiuc003uds.4 human [O00291-1]
uc064emn.1 human

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
3092
DisGeNETi3092
EuPathDBiHostDB:ENSG00000127946.16

GeneCards: human genes, protein and diseases

More...
GeneCardsi
HIP1
HGNCiHGNC:4913 HIP1
HPAiCAB015334
CAB016402
HPA013606
HPA017964
MalaCardsiHIP1
MIMi601767 gene
neXtProtiNX_O00291
OpenTargetsiENSG00000127946
PharmGKBiPA29289

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0980 Eukaryota
ENOG410XRXQ LUCA
GeneTreeiENSGT00940000153594
HOGENOMiHOG000020612
HOVERGENiHBG005968
InParanoidiO00291
KOiK04559
OMAiQAQRKTQ
OrthoDBiEOG091G07Y5
PhylomeDBiO00291
TreeFamiTF316860

Enzyme and pathway databases

ReactomeiR-HSA-8856828 Clathrin-mediated endocytosis
SIGNORiO00291

Miscellaneous databases

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

More...
ChiTaRSi
HIP1 human
EvolutionaryTraceiO00291

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

More...
GenomeRNAii
3092

Protein Ontology

More...
PROi
PR:O00291

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000127946 Expressed in 220 organ(s), highest expression level in corpus callosum
CleanExiHS_HIP1
ExpressionAtlasiO00291 baseline and differential
GenevisibleiO00291 HS

Family and domain databases

Gene3Di1.25.40.90, 1 hit
InterProiView protein in InterPro
IPR011417 ANTH_dom
IPR013809 ENTH
IPR008942 ENTH_VHS
IPR030554 HIP1
IPR032422 HIP1_clath-bd
IPR035964 I/LWEQ_dom_sf
IPR002558 ILWEQ_dom
IPR030224 Sla2_fam
PANTHERiPTHR10407 PTHR10407, 1 hit
PTHR10407:SF14 PTHR10407:SF14, 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

More...
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 nameiHIP1_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: O00291
Secondary accession number(s): B4E3I7
, E7ES17, O00328, Q2TB58, Q8TDL4, V5LU97
<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: September 23, 2008
Last modified: December 5, 2018
This is version 191 of the entry and version 5 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. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  2. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  3. SIMILARITY comments
    Index of protein domains and families
  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
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