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-related protein

Gene

HIP1R

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

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

GO - Molecular functioni

  • actin filament binding Source: ParkinsonsUK-UCL
  • clathrin binding Source: ParkinsonsUK-UCL
  • phosphatidylinositol-3,4,5-trisphosphate binding Source: ParkinsonsUK-UCL
  • phosphatidylinositol-3,4-bisphosphate binding Source: ParkinsonsUK-UCL
  • phosphatidylinositol-3,5-bisphosphate binding Source: ParkinsonsUK-UCL
  • phosphatidylinositol-4,5-bisphosphate binding Source: ParkinsonsUK-UCL
  • phosphatidylinositol binding Source: UniProtKB
  • protein homodimerization activity Source: ParkinsonsUK-UCL

GO - Biological processi

  • activation of cysteine-type endopeptidase activity involved in apoptotic process Source: ParkinsonsUK-UCL
  • apoptotic process Source: InterPro
  • clathrin-dependent endocytosis Source: InterPro
  • negative regulation of actin filament polymerization Source: ParkinsonsUK-UCL
  • positive regulation of apoptotic process Source: ParkinsonsUK-UCL
  • positive regulation of epidermal growth factor receptor signaling pathway Source: ParkinsonsUK-UCL
  • positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway Source: ParkinsonsUK-UCL
  • positive regulation of platelet-derived growth factor receptor-beta signaling pathway Source: ParkinsonsUK-UCL
  • positive regulation of protein binding Source: ParkinsonsUK-UCL
  • protein stabilization Source: ParkinsonsUK-UCL
  • receptor-mediated endocytosis Source: UniProtKB
  • regulation of actin cytoskeleton organization Source: ParkinsonsUK-UCL
  • regulation of clathrin-dependent endocytosis Source: ParkinsonsUK-UCL
  • regulation of endocytosis Source: ParkinsonsUK-UCL
Complete GO annotation...

Keywords - Biological processi

Endocytosis

Keywords - Ligandi

Actin-binding

Enzyme and pathway databases

BioCyciZFISH:ENSG00000130787-MONOMER.
ReactomeiR-HSA-432722. Golgi Associated Vesicle Biogenesis.
R-HSA-8856828. Clathrin-mediated endocytosis.
SIGNORiO75146.

Names & Taxonomyi

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
Gene namesi
Name:HIP1R
Synonyms:HIP12, KIAA0655
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

HGNCiHGNC:18415. HIP1R.

Subcellular locationi

GO - Cellular componenti

  • clathrin-coated pit Source: Ensembl
  • clathrin-coated vesicle Source: UniProtKB
  • clathrin-coated vesicle membrane Source: UniProtKB-SubCell
  • cytoplasm Source: HPA
  • cytoskeleton Source: Ensembl
  • dendrite cytoplasm Source: ParkinsonsUK-UCL
  • dendritic spine Source: ParkinsonsUK-UCL
  • intracellular membrane-bounded organelle Source: HPA
  • mitochondrion Source: GOC
  • neuronal cell body Source: ParkinsonsUK-UCL
  • perinuclear region of cytoplasm Source: UniProtKB-SubCell
  • postsynaptic density Source: ParkinsonsUK-UCL
  • ruffle membrane Source: ParkinsonsUK-UCL
  • synaptic membrane Source: ParkinsonsUK-UCL
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Cytoplasmic vesicle, Membrane

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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

DisGeNETi9026.
OpenTargetsiENSG00000130787.
PharmGKBiPA128394543.

Polymorphism and mutation databases

BioMutaiHIP1R.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000839841 – 1068Huntingtin-interacting protein 1-related proteinAdd BLAST1068

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei1N-acetylmethionineCombined sources1
Modified residuei1017PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiO75146.
MaxQBiO75146.
PaxDbiO75146.
PeptideAtlasiO75146.
PRIDEiO75146.

PTM databases

iPTMnetiO75146.
PhosphoSitePlusiO75146.
SwissPalmiO75146.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiENSG00000130787.
CleanExiHS_HIP1R.
ExpressionAtlasiO75146. baseline and differential.
GenevisibleiO75146. HS.

Organism-specific databases

HPAiCAB017187.
HPA038135.
HPA038136.

Interactioni

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

GO - Molecular functioni

  • actin filament binding Source: ParkinsonsUK-UCL
  • clathrin binding Source: ParkinsonsUK-UCL
  • protein homodimerization activity Source: ParkinsonsUK-UCL

Protein-protein interaction databases

BioGridi114493. 61 interactors.
DIPiDIP-17042N.
IntActiO75146. 22 interactors.
MINTiMINT-2797489.
STRINGi9606.ENSP00000253083.

Structurei

Secondary structure

11068
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi776 – 778Combined sources3
Helixi779 – 811Combined sources33
Helixi814 – 852Combined sources39
Helixi858 – 864Combined sources7
Helixi866 – 895Combined sources30
Helixi900 – 922Combined sources23
Turni929 – 931Combined sources3
Helixi932 – 964Combined sources33

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...

Miscellaneous databases

EvolutionaryTraceiO75146.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini23 – 151ENTHPROSITE-ProRule annotationAdd BLAST129
Domaini771 – 1012I/LWEQPROSITE-ProRule annotationAdd BLAST242

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni867 – 924Important for actin bindingAdd BLAST58

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili347 – 599Sequence analysisAdd BLAST253

Domaini

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

Sequence similaritiesi

Belongs to the SLA2 family.Curated
Contains 1 ENTH (epsin N-terminal homology) domain.PROSITE-ProRule annotation
Contains 1 I/LWEQ domain.PROSITE-ProRule annotation

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiKOG0980. Eukaryota.
ENOG410XRXQ. LUCA.
GeneTreeiENSGT00550000074542.
HOGENOMiHOG000020612.
HOVERGENiHBG005968.
InParanoidiO75146.
KOiK20040.
OMAiAFQMEQV.
OrthoDBiEOG091G07Y5.
PhylomeDBiO75146.
TreeFamiTF316860.

Family and domain databases

Gene3Di1.20.1410.10. 1 hit.
1.25.40.90. 1 hit.
InterProiIPR011417. ANTH_dom.
IPR013809. ENTH.
IPR008942. ENTH_VHS.
IPR032422. HIP1_clath-bd.
IPR030555. HIP1R.
IPR002558. ILWEQ_dom.
IPR030224. Sla2_fam.
[Graphical view]
PANTHERiPTHR10407. PTHR10407. 1 hit.
PTHR10407:SF10. PTHR10407:SF10. 1 hit.
PfamiPF07651. ANTH. 1 hit.
PF16515. HIP1_clath_bdg. 1 hit.
PF01608. I_LWEQ. 1 hit.
[Graphical view]
ProDomiPD011820. ILWEQ. 1 hit.
[Graphical view] [Entries sharing at least one domain]
SMARTiSM00273. ENTH. 1 hit.
SM00307. ILWEQ. 1 hit.
[Graphical view]
SUPFAMiSSF109885. SSF109885. 1 hit.
SSF48464. SSF48464. 1 hit.
PROSITEiPS50942. ENTH. 1 hit.
PS50945. I_LWEQ. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

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
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

Sequence cautioni

The sequence BAA31630 differs from that shown. Reason: Erroneous initiation.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_070814345N → S.1 PublicationCorresponds to variant rs149504879dbSNPEnsembl.1
Natural variantiVAR_051029404K → Q.Corresponds to variant rs7972242dbSNPEnsembl.1
Natural variantiVAR_051030516K → Q.Corresponds to variant rs7972242dbSNPEnsembl.1
Natural variantiVAR_020043782V → M.Corresponds to variant rs2271051dbSNPEnsembl.1
Natural variantiVAR_051031943N → S.Corresponds to variant rs3736414dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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:
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.

Genome annotation databases

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

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

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. 61 interactors.
DIPiDIP-17042N.
IntActiO75146. 22 interactors.
MINTiMINT-2797489.
STRINGi9606.ENSP00000253083.

PTM databases

iPTMnetiO75146.
PhosphoSitePlusiO75146.
SwissPalmiO75146.

Polymorphism and mutation databases

BioMutaiHIP1R.

Proteomic databases

EPDiO75146.
MaxQBiO75146.
PaxDbiO75146.
PeptideAtlasiO75146.
PRIDEiO75146.

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

CTDi9026.
DisGeNETi9026.
GeneCardsiHIP1R.
HGNCiHGNC:18415. HIP1R.
HPAiCAB017187.
HPA038135.
HPA038136.
MIMi605613. gene.
neXtProtiNX_O75146.
OpenTargetsiENSG00000130787.
PharmGKBiPA128394543.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0980. Eukaryota.
ENOG410XRXQ. LUCA.
GeneTreeiENSGT00550000074542.
HOGENOMiHOG000020612.
HOVERGENiHBG005968.
InParanoidiO75146.
KOiK20040.
OMAiAFQMEQV.
OrthoDBiEOG091G07Y5.
PhylomeDBiO75146.
TreeFamiTF316860.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000130787-MONOMER.
ReactomeiR-HSA-432722. Golgi Associated Vesicle Biogenesis.
R-HSA-8856828. Clathrin-mediated endocytosis.
SIGNORiO75146.

Miscellaneous databases

ChiTaRSiHIP1R. human.
EvolutionaryTraceiO75146.
GeneWikiiHIP1R.
GenomeRNAii9026.
PROiO75146.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000130787.
CleanExiHS_HIP1R.
ExpressionAtlasiO75146. baseline and differential.
GenevisibleiO75146. HS.

Family and domain databases

Gene3Di1.20.1410.10. 1 hit.
1.25.40.90. 1 hit.
InterProiIPR011417. ANTH_dom.
IPR013809. ENTH.
IPR008942. ENTH_VHS.
IPR032422. HIP1_clath-bd.
IPR030555. HIP1R.
IPR002558. ILWEQ_dom.
IPR030224. Sla2_fam.
[Graphical view]
PANTHERiPTHR10407. PTHR10407. 1 hit.
PTHR10407:SF10. PTHR10407:SF10. 1 hit.
PfamiPF07651. ANTH. 1 hit.
PF16515. HIP1_clath_bdg. 1 hit.
PF01608. I_LWEQ. 1 hit.
[Graphical view]
ProDomiPD011820. ILWEQ. 1 hit.
[Graphical view] [Entries sharing at least one domain]
SMARTiSM00273. ENTH. 1 hit.
SM00307. ILWEQ. 1 hit.
[Graphical view]
SUPFAMiSSF109885. SSF109885. 1 hit.
SSF48464. SSF48464. 1 hit.
PROSITEiPS50942. ENTH. 1 hit.
PS50945. I_LWEQ. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiHIP1R_HUMAN
AccessioniPrimary (citable) accession number: O75146
Secondary accession number(s): A6NHQ6, Q6NXG8, Q9UED9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 27, 2001
Last sequence update: April 27, 2001
Last modified: November 30, 2016
This is version 152 of the entry and version 2 of the sequence. [Complete history]
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.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
  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. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.