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Protein

PIH1 domain-containing protein 2

Gene

PIH1D2

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

Functioni

GO - Molecular functioni

  • Ral GTPase binding Source: UniProtKB

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

EuPathDBiHostDB:ENSG00000150773.10
HGNCiHGNC:25210 PIH1D2
neXtProtiNX_Q8WWB5

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000150773
PharmGKBiPA162399536

Polymorphism and mutation databases

BioMutaiPIH1D2
DMDMi74730959

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003073341 – 315PIH1 domain-containing protein 2Add BLAST315

Proteomic databases

PaxDbiQ8WWB5
PeptideAtlasiQ8WWB5
PRIDEiQ8WWB5
ProteomicsDBi74873

PTM databases

PhosphoSitePlusiQ8WWB5

Expressioni

Gene expression databases

BgeeiENSG00000150773
CleanExiHS_PIH1D2
ExpressionAtlasiQ8WWB5 baseline and differential
GenevisibleiQ8WWB5 HS

Organism-specific databases

HPAiHPA039496

Interactioni

Binary interactionsi

Show more details

GO - Molecular functioni

  • Ral GTPase binding Source: UniProtKB

Protein-protein interaction databases

BioGridi125683, 12 interactors
IntActiQ8WWB5, 48 interactors
STRINGi9606.ENSP00000280350

Structurei

3D structure databases

ProteinModelPortaliQ8WWB5
SMRiQ8WWB5
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

InterProiView protein in InterPro
IPR012981 PIH1_dom
PANTHERiPTHR22997 PTHR22997, 1 hit
PfamiView protein in Pfam
PF08190 PIH1, 1 hit

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)DescriptionActionsGraphical viewLength
Natural variantiVAR_035415117A → V. Corresponds to variant dbSNP:rs1425917Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_054022272 – 288DDLLI…LHLNL → GTTEPQALAKDELSLKF in isoform 2. 1 PublicationAdd BLAST17
Alternative sequenceiVSP_054023272 – 273DD → VS in isoform 3. 1 Publication2
Alternative sequenceiVSP_054024274 – 315Missing in isoform 3. 1 PublicationAdd BLAST42
Alternative sequenceiVSP_054025289 – 315Missing in isoform 2. 1 PublicationAdd BLAST27

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]
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

Similar proteinsi

Entry informationi

Entry nameiPIHD2_HUMAN
AccessioniPrimary (citable) accession number: Q8WWB5
Secondary accession number(s): B4DU48, E9PD82
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 23, 2007
Last sequence update: March 1, 2002
Last modified: June 20, 2018
This is version 106 of the entry and version 1 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

Complete proteome, Reference proteome

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