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Protein

Hematopoietic SH2 domain-containing protein

Gene

HSH2D

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

Functioni

May be a modulator of the apoptotic response through its ability to affect mitochondrial stability (By similarity). Adapter protein involved in tyrosine kinase and CD28 signaling. Seems to affect CD28-mediated activation of the RE/AP element of the interleukin-2 promoter.By similarity3 Publications

GO - Biological processi

Complete GO annotation...

Enzyme and pathway databases

BioCyciZFISH:ENSG00000131362-MONOMER.
SignaLinkiQ96JZ2.

Names & Taxonomyi

Protein namesi
Recommended name:
Hematopoietic SH2 domain-containing protein
Short name:
Hematopoietic SH2 protein
Alternative name(s):
Adaptor in lymphocytes of unknown function X
Gene namesi
Name:HSH2D
Synonyms:ALX
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

HGNCiHGNC:24920. HSH2D.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi10 – 13PLPP → ALPA: No change in the ability to inhibit RE/AP up-regulation in response to TCR/CD28 stimulation. 1 Publication4
Mutagenesisi59R → K: Loss of the ability to inhibit RE/AP up-regulation in response to TCR/CD28 stimulation. 1
Mutagenesisi116P → A: No change in the ability to inhibit RE/AP up-regulation in response to TCR/CD28 stimulation. 1 Publication1
Mutagenesisi135Y → F: No change in the ability to inhibit RE/AP up-regulation in response to TCR/CD28 stimulation. 1 Publication1
Mutagenesisi192 – 195PKSP → AKSA: No change in the ability to inhibit RE/AP up-regulation in response to TCR/CD28 stimulation. 1 Publication4
Mutagenesisi341Y → F: No change in the ability to inhibit RE/AP up-regulation in response to TCR/CD28 stimulation. 1 Publication1
Mutagenesisi346 – 349PFAP → AFAA: No change in the ability to inhibit RE/AP up-regulation in response to TCR/CD28 stimulation. 1 Publication4

Organism-specific databases

DisGeNETi84941.
OpenTargetsiENSG00000196684.
PharmGKBiPA134927763.

Polymorphism and mutation databases

BioMutaiHSH2D.
DMDMi74732160.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002331291 – 352Hematopoietic SH2 domain-containing proteinAdd BLAST352

Post-translational modificationi

May be phosphorylated by FES and ACK1.2 Publications

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ96JZ2.
MaxQBiQ96JZ2.
PaxDbiQ96JZ2.
PeptideAtlasiQ96JZ2.
PRIDEiQ96JZ2.

PTM databases

iPTMnetiQ96JZ2.
PhosphoSitePlusiQ96JZ2.

Expressioni

Tissue specificityi

Predominantly expressed in spleen and hematopoietic cells such as peripheral blood leukocytes and weakly expressed in prostate, thymus, heart, small intestine and placenta.2 Publications

Gene expression databases

BgeeiENSG00000196684.
CleanExiHS_HSH2D.
ExpressionAtlasiQ96JZ2. baseline and differential.
GenevisibleiQ96JZ2. HS.

Organism-specific databases

HPAiHPA036616.

Interactioni

Subunit structurei

Interacts with FES and TNK2.1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
KITP107215EBI-3919324,EBI-1379503

Protein-protein interaction databases

BioGridi124375. 12 interactors.
IntActiQ96JZ2. 15 interactors.
STRINGi9606.ENSP00000253680.

Structurei

Secondary structure

1352
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi28 – 30Combined sources3
Beta strandi33 – 35Combined sources3
Helixi41 – 49Combined sources9
Beta strandi56 – 60Combined sources5
Beta strandi62 – 71Combined sources10
Beta strandi74 – 76Combined sources3
Beta strandi78 – 84Combined sources7
Beta strandi99 – 101Combined sources3
Helixi102 – 109Combined sources8

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2CS0NMR-A24-129[»]
ProteinModelPortaliQ96JZ2.
SMRiQ96JZ2.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ96JZ2.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini34 – 125SH2PROSITE-ProRule annotationAdd BLAST92

Sequence similaritiesi

Contains 1 SH2 domain.PROSITE-ProRule annotation

Keywords - Domaini

SH2 domain

Phylogenomic databases

eggNOGiENOG410IXE0. Eukaryota.
ENOG4111Y35. LUCA.
GeneTreeiENSGT00570000079047.
HOGENOMiHOG000112961.
HOVERGENiHBG081611.
InParanoidiQ96JZ2.
OMAiFHQQKPI.
OrthoDBiEOG091G0C3M.
PhylomeDBiQ96JZ2.
TreeFamiTF336893.

Family and domain databases

Gene3Di3.30.505.10. 1 hit.
InterProiIPR000980. SH2.
[Graphical view]
PfamiPF00017. SH2. 1 hit.
[Graphical view]
PRINTSiPR00401. SH2DOMAIN.
SMARTiSM00252. SH2. 1 hit.
[Graphical view]
SUPFAMiSSF55550. SSF55550. 1 hit.
PROSITEiPS50001. SH2. 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: Q96JZ2-1) [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
MTEAGKLPLP LPPRLDWFVH TQMGQLAQDG VPEWFHGAIS REDAENLLES
60 70 80 90 100
QPLGSFLIRV SHSHVGYTLS YKAQSSCCHF MVKLLDDGTF MIPGEKVAHT
110 120 130 140 150
SLDALVTFHQ QKPIEPRREL LTQPCRQKDP ANVDYEDLFL YSNAVAEEAA
160 170 180 190 200
CPVSAPEEAS PKPVLCHQSK ERKPSAEMNR ITTKEATSSC PPKSPLGETR
210 220 230 240 250
QKLWRSLKML PERGQRVRQQ LKSHLATVNL SSLLDVRRST VISGPGTGKG
260 270 280 290 300
SQDHSGDPTS GDRGYTDPCV ATSLKSPSQP QAPKDRKVPT RKAERSVSCI
310 320 330 340 350
EVTPGDRSWH QMVVRALSSQ ESKPEHQGLA EPENDQLPEE YQQPPPFAPG

YC
Length:352
Mass (Da):39,002
Last modified:December 1, 2001 - v1
Checksum:iCB6B7EAE424A08C3
GO
Isoform 2 (identifier: Q96JZ2-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-72: MTEAGKLPLP...SHVGYTLSYK → MRGSRMSQPPQCLRR

Note: No experimental confirmation available.
Show »
Length:295
Mass (Da):32,704
Checksum:i75269E0DC3046849
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti180R → G in BAD18408 (PubMed:14702039).Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0180521 – 72MTEAG…TLSYK → MRGSRMSQPPQCLRR in isoform 2. 1 PublicationAdd BLAST72

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY319652 mRNA. Translation: AAQ81285.1.
AK027792 mRNA. Translation: BAB55372.1.
AK131222 mRNA. Translation: BAD18408.1.
AC008894 Genomic DNA. No translation available.
AC020911 Genomic DNA. No translation available.
CH471106 Genomic DNA. Translation: EAW84529.1.
BC025237 mRNA. Translation: AAH25237.1.
CCDSiCCDS74304.1. [Q96JZ2-1]
PIRiJC7781.
RefSeqiNP_001278203.1. NM_001291274.1. [Q96JZ2-2]
NP_116244.1. NM_032855.3. [Q96JZ2-1]
UniGeneiHs.631617.

Genome annotation databases

EnsembliENST00000613986; ENSP00000483354; ENSG00000196684. [Q96JZ2-1]
ENST00000616645; ENSP00000482604; ENSG00000196684. [Q96JZ2-1]
GeneIDi84941.
KEGGihsa:84941.
UCSCiuc032hot.2. human. [Q96JZ2-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY319652 mRNA. Translation: AAQ81285.1.
AK027792 mRNA. Translation: BAB55372.1.
AK131222 mRNA. Translation: BAD18408.1.
AC008894 Genomic DNA. No translation available.
AC020911 Genomic DNA. No translation available.
CH471106 Genomic DNA. Translation: EAW84529.1.
BC025237 mRNA. Translation: AAH25237.1.
CCDSiCCDS74304.1. [Q96JZ2-1]
PIRiJC7781.
RefSeqiNP_001278203.1. NM_001291274.1. [Q96JZ2-2]
NP_116244.1. NM_032855.3. [Q96JZ2-1]
UniGeneiHs.631617.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2CS0NMR-A24-129[»]
ProteinModelPortaliQ96JZ2.
SMRiQ96JZ2.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi124375. 12 interactors.
IntActiQ96JZ2. 15 interactors.
STRINGi9606.ENSP00000253680.

PTM databases

iPTMnetiQ96JZ2.
PhosphoSitePlusiQ96JZ2.

Polymorphism and mutation databases

BioMutaiHSH2D.
DMDMi74732160.

Proteomic databases

EPDiQ96JZ2.
MaxQBiQ96JZ2.
PaxDbiQ96JZ2.
PeptideAtlasiQ96JZ2.
PRIDEiQ96JZ2.

Protocols and materials databases

DNASUi84941.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000613986; ENSP00000483354; ENSG00000196684. [Q96JZ2-1]
ENST00000616645; ENSP00000482604; ENSG00000196684. [Q96JZ2-1]
GeneIDi84941.
KEGGihsa:84941.
UCSCiuc032hot.2. human. [Q96JZ2-1]

Organism-specific databases

CTDi84941.
DisGeNETi84941.
GeneCardsiHSH2D.
HGNCiHGNC:24920. HSH2D.
HPAiHPA036616.
MIMi608349. gene.
neXtProtiNX_Q96JZ2.
OpenTargetsiENSG00000196684.
PharmGKBiPA134927763.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IXE0. Eukaryota.
ENOG4111Y35. LUCA.
GeneTreeiENSGT00570000079047.
HOGENOMiHOG000112961.
HOVERGENiHBG081611.
InParanoidiQ96JZ2.
OMAiFHQQKPI.
OrthoDBiEOG091G0C3M.
PhylomeDBiQ96JZ2.
TreeFamiTF336893.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000131362-MONOMER.
SignaLinkiQ96JZ2.

Miscellaneous databases

ChiTaRSiHSH2D. human.
EvolutionaryTraceiQ96JZ2.
GenomeRNAii84941.
PROiQ96JZ2.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000196684.
CleanExiHS_HSH2D.
ExpressionAtlasiQ96JZ2. baseline and differential.
GenevisibleiQ96JZ2. HS.

Family and domain databases

Gene3Di3.30.505.10. 1 hit.
InterProiIPR000980. SH2.
[Graphical view]
PfamiPF00017. SH2. 1 hit.
[Graphical view]
PRINTSiPR00401. SH2DOMAIN.
SMARTiSM00252. SH2. 1 hit.
[Graphical view]
SUPFAMiSSF55550. SSF55550. 1 hit.
PROSITEiPS50001. SH2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiHSH2D_HUMAN
AccessioniPrimary (citable) accession number: Q96JZ2
Secondary accession number(s): B5ME72, Q6ZNG7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 2, 2006
Last sequence update: December 1, 2001
Last modified: November 30, 2016
This is version 120 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  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.