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Protein

Huntingtin-interacting protein 1-related protein

Gene

HIP1R

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

GO - Biological processi

Keywordsi

Molecular functionActin-binding
Biological processEndocytosis

Enzyme and pathway databases

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

EuPathDBiHostDB:ENSG00000130787.13
HGNCiHGNC:18415 HIP1R
MIMi605613 gene
neXtProtiNX_O75146

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

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
ProteomicsDBi49810

PTM databases

iPTMnetiO75146
PhosphoSitePlusiO75146
SwissPalmiO75146

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiENSG00000130787 Expressed in 209 organ(s), highest expression level in substantia nigra
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

Binary interactionsi

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

GO - Molecular functioni

Protein-protein interaction databases

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

Structurei

Secondary structure

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

3D structure databases

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

Keywords - Domaini

Coiled coil

Phylogenomic databases

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

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

Sequences (2+)i

Sequence statusi: Complete.

This entry describes 2 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
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

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:

Sequence cautioni

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

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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
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

Similar proteinsi

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
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

CTDi9026
DisGeNETi9026
EuPathDBiHostDB:ENSG00000130787.13
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
OMAiQYDRRVK
OrthoDBiEOG091G07Y5
PhylomeDBiO75146
TreeFamiTF316860

Enzyme and pathway databases

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

Miscellaneous databases

ChiTaRSiHIP1R human
EvolutionaryTraceiO75146
GeneWikiiHIP1R
GenomeRNAii9026
PROiPR:O75146
SOURCEiSearch...

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
ProtoNetiSearch...

Entry informationi

Entry nameiHIP1R_HUMAN
AccessioniPrimary (citable) accession number: O75146
Secondary accession number(s): A6NHQ6, Q6NXG8, Q9UED9
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 27, 2001
Last sequence update: April 27, 2001
Last modified: November 7, 2018
This is version 166 of the entry and version 2 of the sequence. See 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. 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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