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Protein

PIH1 domain-containing protein 2

Gene

PIH1D2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-Experimental evidence at protein leveli

Functioni

GO - Molecular functioni

  • Ral GTPase binding Source: UniProtKB
Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
PIH1 domain-containing protein 2
Gene namesi
Name:PIH1D2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

HGNCiHGNC:25210. PIH1D2.

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA162399536.

Polymorphism and mutation databases

BioMutaiPIH1D2.
DMDMi74730959.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 315315PIH1 domain-containing protein 2PRO_0000307334Add
BLAST

Proteomic databases

PaxDbiQ8WWB5.
PeptideAtlasiQ8WWB5.
PRIDEiQ8WWB5.

PTM databases

PhosphoSiteiQ8WWB5.

Expressioni

Gene expression databases

BgeeiENSG00000150773.
CleanExiHS_PIH1D2.
ExpressionAtlasiQ8WWB5. baseline and differential.
GenevisibleiQ8WWB5. HS.

Organism-specific databases

HPAiHPA039496.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
DPH3Q96FX23EBI-10232538,EBI-465363
EIF4A2Q14240-23EBI-10232538,EBI-10232522
GFAPP141363EBI-10232538,EBI-744302
ITGB3BPQ13352-53EBI-10232538,EBI-10175826
KRTAP12-4P603293EBI-10232538,EBI-10176396
MDFIQ997503EBI-10232538,EBI-724076
MRFAP1L1Q96HT83EBI-10232538,EBI-748896
RELQ048643EBI-10232538,EBI-307352

GO - Molecular functioni

  • Ral GTPase binding Source: UniProtKB

Protein-protein interaction databases

BioGridi125683. 12 interactions.
IntActiQ8WWB5. 8 interactions.
STRINGi9606.ENSP00000280350.

Structurei

3D structure databases

ProteinModelPortaliQ8WWB5.
SMRiQ8WWB5. Positions 49-159.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the PIH1 family.Curated

Phylogenomic databases

eggNOGiKOG4356. Eukaryota.
ENOG410XQ8C. LUCA.
GeneTreeiENSGT00510000048581.
HOGENOMiHOG000007139.
HOVERGENiHBG103388.
InParanoidiQ8WWB5.
OMAiKGSIQRM.
OrthoDBiEOG091G0T3C.
PhylomeDBiQ8WWB5.
TreeFamiTF324376.

Family and domain databases

InterProiIPR012981. PIH1.
[Graphical view]
PANTHERiPTHR22997. PTHR22997. 1 hit.
PfamiPF08190. PIH1. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8WWB5-1) [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
METSSKGLLT QVTQFWNLLD DLAQSDPEGY EKFIQQQLKE GKQLCAAPEP
60 70 80 90 100
QLCLQTRILK PKEKILFINL CQWTRIPAPQ STTHPVPLTV GKPEDTTEIS
110 120 130 140 150
DAYTVIDVAY NPDVLHAAEK DQVKKNQLIQ MAMKCIEEKF QFTLSHSYHI
160 170 180 190 200
TKFRIKGSIQ RMKQNLMGIQ TDSIDLREKM RRELTLGQIR SSTMSNPDHF
210 220 230 240 250
PQLLLPKDQV SGKAVCLIEE ISSTEIQVEM KMPAYELKIV HDHSEKPLKI
260 270 280 290 300
ELKVELPGIN SVSLCDLSVS EDDLLIEVSE KYRLHLNLPK LIDTEMTTAK
310
FIKEKSTLII TMPLV
Length:315
Mass (Da):35,957
Last modified:March 1, 2002 - v1
Checksum:iF136BA2D0B28182C
GO
Isoform 2 (identifier: Q8WWB5-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     272-288: DDLLIEVSEKYRLHLNL → GTTEPQALAKDELSLKF
     289-315: Missing.

Show »
Length:288
Mass (Da):32,690
Checksum:i97750CD21CD107CB
GO
Isoform 3 (identifier: Q8WWB5-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     272-273: DD → VS
     274-315: Missing.

Note: May be due to a competing donor splice site. No experimental confirmation available.
Show »
Length:273
Mass (Da):31,046
Checksum:i23F4C764433AD8C6
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti117 – 1171A → V.
Corresponds to variant rs1425917 [ dbSNP | Ensembl ].
VAR_035415

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei272 – 28817DDLLI…LHLNL → GTTEPQALAKDELSLKF in isoform 2. 1 PublicationVSP_054022Add
BLAST
Alternative sequencei272 – 2732DD → VS in isoform 3. 1 PublicationVSP_054023
Alternative sequencei274 – 31542Missing in isoform 3. 1 PublicationVSP_054024Add
BLAST
Alternative sequencei289 – 31527Missing in isoform 2. 1 PublicationVSP_054025Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK300496 mRNA. Translation: BAG62210.1.
AP000907 Genomic DNA. No translation available.
CH471065 Genomic DNA. Translation: EAW67177.1.
BC019238 mRNA. Translation: AAH19238.1.
BP369833 mRNA. No translation available.
CCDSiCCDS44730.1. [Q8WWB5-2]
CCDS8355.1. [Q8WWB5-1]
RefSeqiNP_001076088.1. NM_001082619.1. [Q8WWB5-2]
NP_620144.1. NM_138789.3. [Q8WWB5-1]
XP_011540895.2. XM_011542593.2. [Q8WWB5-3]
UniGeneiHs.420662.

Genome annotation databases

EnsembliENST00000280350; ENSP00000280350; ENSG00000150773. [Q8WWB5-1]
ENST00000431456; ENSP00000388209; ENSG00000150773. [Q8WWB5-2]
ENST00000528775; ENSP00000434275; ENSG00000150773. [Q8WWB5-2]
ENST00000530641; ENSP00000431147; ENSG00000150773. [Q8WWB5-3]
ENST00000532211; ENSP00000431841; ENSG00000150773. [Q8WWB5-1]
GeneIDi120379.
KEGGihsa:120379.
UCSCiuc001pmp.5. human. [Q8WWB5-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK300496 mRNA. Translation: BAG62210.1.
AP000907 Genomic DNA. No translation available.
CH471065 Genomic DNA. Translation: EAW67177.1.
BC019238 mRNA. Translation: AAH19238.1.
BP369833 mRNA. No translation available.
CCDSiCCDS44730.1. [Q8WWB5-2]
CCDS8355.1. [Q8WWB5-1]
RefSeqiNP_001076088.1. NM_001082619.1. [Q8WWB5-2]
NP_620144.1. NM_138789.3. [Q8WWB5-1]
XP_011540895.2. XM_011542593.2. [Q8WWB5-3]
UniGeneiHs.420662.

3D structure databases

ProteinModelPortaliQ8WWB5.
SMRiQ8WWB5. Positions 49-159.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi125683. 12 interactions.
IntActiQ8WWB5. 8 interactions.
STRINGi9606.ENSP00000280350.

PTM databases

PhosphoSiteiQ8WWB5.

Polymorphism and mutation databases

BioMutaiPIH1D2.
DMDMi74730959.

Proteomic databases

PaxDbiQ8WWB5.
PeptideAtlasiQ8WWB5.
PRIDEiQ8WWB5.

Protocols and materials databases

DNASUi120379.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000280350; ENSP00000280350; ENSG00000150773. [Q8WWB5-1]
ENST00000431456; ENSP00000388209; ENSG00000150773. [Q8WWB5-2]
ENST00000528775; ENSP00000434275; ENSG00000150773. [Q8WWB5-2]
ENST00000530641; ENSP00000431147; ENSG00000150773. [Q8WWB5-3]
ENST00000532211; ENSP00000431841; ENSG00000150773. [Q8WWB5-1]
GeneIDi120379.
KEGGihsa:120379.
UCSCiuc001pmp.5. human. [Q8WWB5-1]

Organism-specific databases

CTDi120379.
GeneCardsiPIH1D2.
HGNCiHGNC:25210. PIH1D2.
HPAiHPA039496.
neXtProtiNX_Q8WWB5.
PharmGKBiPA162399536.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4356. Eukaryota.
ENOG410XQ8C. LUCA.
GeneTreeiENSGT00510000048581.
HOGENOMiHOG000007139.
HOVERGENiHBG103388.
InParanoidiQ8WWB5.
OMAiKGSIQRM.
OrthoDBiEOG091G0T3C.
PhylomeDBiQ8WWB5.
TreeFamiTF324376.

Miscellaneous databases

GenomeRNAii120379.
PROiQ8WWB5.

Gene expression databases

BgeeiENSG00000150773.
CleanExiHS_PIH1D2.
ExpressionAtlasiQ8WWB5. baseline and differential.
GenevisibleiQ8WWB5. HS.

Family and domain databases

InterProiIPR012981. PIH1.
[Graphical view]
PANTHERiPTHR22997. PTHR22997. 1 hit.
PfamiPF08190. PIH1. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiPIHD2_HUMAN
AccessioniPrimary (citable) accession number: Q8WWB5
Secondary accession number(s): B4DU48, E9PD82
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 23, 2007
Last sequence update: March 1, 2002
Last modified: September 7, 2016
This is version 96 of the entry and version 1 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 11
    Human chromosome 11: 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. 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.