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Protein

Pituitary homeobox 2

Gene

PITX2

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

Functioni

Controls cell proliferation in a tissue-specific manner and is involved in morphogenesis. During embryonic development, exerts a role in the expansion of muscle progenitors. May play a role in the proper localization of asymmetric organs such as the heart and stomach. Isoform PTX2C is involved in left-right asymmetry the developing embryo (By similarity).By similarity

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
DNA bindingi85 – 144HomeoboxPROSITE-ProRule annotationAdd BLAST60

GO - Molecular functioni

  • chromatin DNA binding Source: Ensembl
  • identical protein binding Source: IntAct
  • phosphoprotein binding Source: BHF-UCL
  • protein homodimerization activity Source: BHF-UCL
  • ribonucleoprotein complex binding Source: BHF-UCL
  • RNA polymerase II activating transcription factor binding Source: BHF-UCL
  • RNA polymerase II core promoter proximal region sequence-specific DNA binding Source: Ensembl
  • RNA polymerase II transcription coactivator activity Source: BHF-UCL
  • RNA polymerase II transcription factor binding Source: BHF-UCL
  • transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding Source: Ensembl
  • transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding Source: BHF-UCL
  • transcriptional repressor activity, RNA polymerase II transcription factor binding Source: BHF-UCL
  • transcription factor activity, sequence-specific DNA binding Source: UniProtKB
  • transcription factor binding Source: UniProtKB
  • transcription regulatory region sequence-specific DNA binding Source: BHF-UCL

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Ligandi

DNA-binding

Enzyme and pathway databases

BioCyciZFISH:ENSG00000164093-MONOMER.
ReactomeiR-HSA-8866906. TFAP2 (AP-2) family regulates transcription of other transcription factors.
SignaLinkiQ99697.
SIGNORiQ99697.

Names & Taxonomyi

Protein namesi
Recommended name:
Pituitary homeobox 2
Alternative name(s):
ALL1-responsive protein ARP1
Homeobox protein PITX2
Paired-like homeodomain transcription factor 2
RIEG bicoid-related homeobox transcription factor
Solurshin
Gene namesi
Name:PITX2
Synonyms:ARP1, RGS, RIEG, RIEG1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 4

Organism-specific databases

HGNCiHGNC:9005. PITX2.

Subcellular locationi

GO - Cellular componenti

  • cytoplasm Source: Ensembl
  • nucleus Source: BHF-UCL
  • transcription factor complex Source: MGI
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Axenfeld-Rieger syndrome 1 (RIEG1)5 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant disorder of morphogenesis that results in abnormal development of the anterior segment of the eye, and results in blindness from glaucoma in approximately 50% of affected individuals. Additional features include aniridia, maxillary hypoplasia, hypodontia, anal stenosis, redundant periumbilical skin.
See also OMIM:180500
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_003763100L → Q in RIEG1. 1 PublicationCorresponds to variant rs104893857dbSNPEnsembl.1
Natural variantiVAR_058735110P → L in RIEG1. 2 Publications1
Natural variantiVAR_058736110P → R in RIEG1. 1 Publication1
Natural variantiVAR_003764114T → P in RIEG1. 1 PublicationCorresponds to variant rs104893858dbSNPEnsembl.1
Natural variantiVAR_035028128 – 134Missing in RIEG1; more than 100-fold reduction in DNA binding activity as well as no detectable transactivation activity. 7
Natural variantiVAR_035029129V → L in RIEG1; more than 200% increase in transactivation activity. 1 PublicationCorresponds to variant rs121909249dbSNPEnsembl.1
Natural variantiVAR_058737134K → E in RIEG1. 1 PublicationCorresponds to variant rs387906810dbSNPEnsembl.1
Natural variantiVAR_058738136R → C in RIEG1. 2 Publications1
Natural variantiVAR_003766137R → P in RIEG1. 1 PublicationCorresponds to variant rs104893859dbSNPEnsembl.1
Natural variantiVAR_058739151L → V in RIEG1. 1 Publication1
Natural variantiVAR_058740154N → T in RIEG1. 1 Publication1
Iridogoniodysgenesis 2 (IRID2)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAutosomal dominant inherited disease.
See also OMIM:137600
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_003765115R → H in IRID2. 1 PublicationCorresponds to variant rs104893861dbSNPEnsembl.1
Natural variantiVAR_003762130R → W in IRID2. 1 PublicationCorresponds to variant rs121909248dbSNPEnsembl.1
Peters anomaly (PETAN)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionConsists of a central corneal leukoma, absence of the posterior corneal stroma and Descemet membrane, and a variable degree of iris and lenticular attachments to the central aspect of the posterior cornea.
See also OMIM:604229
Ring dermoid of cornea (RDC)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn ocular disorder characterized by bilateral annular limbal dermoids (growths with a skin-like structure) with corneal and conjunctival extension.
See also OMIM:180550
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_035027108R → H in RDC; results in 25% loss of transactivation activity. 2 PublicationsCorresponds to variant rs104893862dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation, Peters anomaly

Organism-specific databases

DisGeNETi5308.
MalaCardsiPITX2.
MIMi137600. phenotype.
180500. phenotype.
180550. phenotype.
604229. phenotype.
OpenTargetsiENSG00000164093.
Orphaneti98978. Axenfeld anomaly.
782. Axenfeld-Rieger syndrome.
334. Familial atrial fibrillation.
708. Peters anomaly.
91483. Rieger anomaly.
91481. Ring dermoid of cornea.
PharmGKBiPA33339.

Polymorphism and mutation databases

BioMutaiPITX2.
DMDMi6174907.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000492231 – 317Pituitary homeobox 2Add BLAST317

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei90Phosphothreonine; by PKB/AKT2By similarity1

Post-translational modificationi

Phosphorylation at Thr-90 impairs its association with the CCND1 mRNA-stabilizing complex thus shortening the half-life of CCND1.By similarity

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ99697.
MaxQBiQ99697.
PaxDbiQ99697.
PeptideAtlasiQ99697.
PRIDEiQ99697.

PTM databases

iPTMnetiQ99697.
PhosphoSitePlusiQ99697.

Expressioni

Gene expression databases

BgeeiENSG00000164093.
CleanExiHS_PITX2.
ExpressionAtlasiQ99697. baseline and differential.
GenevisibleiQ99697. HS.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
CTNNB1P352222EBI-1175211,EBI-491549
FOXC1Q129486EBI-1175243,EBI-1175253
Hoxa1P090223EBI-1175211,EBI-3957603From a different organism.
MEF2AQ020782EBI-1175243,EBI-2656305
Pou1f1P100372EBI-1175243,EBI-9825525From a different organism.
YBX1P678093EBI-1175211,EBI-354065

GO - Molecular functioni

  • identical protein binding Source: IntAct
  • phosphoprotein binding Source: BHF-UCL
  • protein homodimerization activity Source: BHF-UCL
  • RNA polymerase II activating transcription factor binding Source: BHF-UCL
  • RNA polymerase II transcription factor binding Source: BHF-UCL
  • transcription factor binding Source: UniProtKB

Protein-protein interaction databases

BioGridi111325. 18 interactors.
IntActiQ99697. 21 interactors.
STRINGi9606.ENSP00000304169.

Structurei

Secondary structure

1317
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi86 – 88Combined sources3
Beta strandi90 – 92Combined sources3
Helixi94 – 106Combined sources13
Helixi112 – 122Combined sources11
Helixi126 – 141Combined sources16

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2L7FNMR-P85-144[»]
2L7MNMR-P85-144[»]
2LKXNMR-A85-144[»]
ProteinModelPortaliQ99697.
SMRiQ99697.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ99697.

Family & Domainsi

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi279 – 292OARPROSITE-ProRule annotationAdd BLAST14
Motifi285 – 289Nuclear localization signalSequence analysis5

Sequence similaritiesi

Contains 1 homeobox DNA-binding domain.PROSITE-ProRule annotation

Keywords - Domaini

Homeobox

Phylogenomic databases

eggNOGiKOG0486. Eukaryota.
ENOG410ZZ6J. LUCA.
GeneTreeiENSGT00820000126963.
HOGENOMiHOG000273886.
HOVERGENiHBG068770.
InParanoidiQ99697.
KOiK04686.
OMAiPLNIDHH.
OrthoDBiEOG091G0H7U.
PhylomeDBiQ99697.
TreeFamiTF351940.

Family and domain databases

Gene3Di1.10.10.60. 1 hit.
InterProiIPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR016233. Homeobox_Pitx/unc30.
IPR009057. Homeodomain-like.
IPR003654. OAR_dom.
[Graphical view]
PfamiPF00046. Homeobox. 1 hit.
PF03826. OAR. 1 hit.
[Graphical view]
PIRSFiPIRSF000563. Homeobox_protein_Pitx/Unc30. 1 hit.
SMARTiSM00389. HOX. 1 hit.
[Graphical view]
SUPFAMiSSF46689. SSF46689. 1 hit.
PROSITEiPS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
PS50803. OAR. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

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

Isoform PTX2B (identifier: Q99697-1) [UniParc]FASTAAdd to basket
Also known as: ARP1B

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
METNCRKLVS ACVQLGVQPA AVECLFSKDS EIKKVEFTDS PESRKEAASS
60 70 80 90 100
KFFPRQHPGA NEKDKSQQGK NEDVGAEDPS KKKRQRRQRT HFTSQQLQEL
110 120 130 140 150
EATFQRNRYP DMSTREEIAV WTNLTEARVR VWFKNRRAKW RKRERNQQAE
160 170 180 190 200
LCKNGFGPQF NGLMQPYDDM YPGYSYNNWA AKGLTSASLS TKSFPFFNSM
210 220 230 240 250
NVNPLSSQSM FSPPNSISSM SMSSSMVPSA VTGVPGSSLN SLNNLNNLSS
260 270 280 290 300
PSLNSAVPTP ACPYAPPTPP YVYRDTCNSS LASLRLKAKQ HSSFGYASVQ
310
NPASNLSACQ YAVDRPV
Length:317
Mass (Da):35,370
Last modified:July 15, 1999 - v2
Checksum:i00853AFDBA4433CB
GO
Isoform PTX2C (identifier: Q99697-2) [UniParc]FASTAAdd to basket
Also known as: ARP1C

The sequence of this isoform differs from the canonical sequence as follows:
     1-61: METNCRKLVS...FFPRQHPGAN → MNCMKGPLHL...ISDTSSPEAA

Show »
Length:324
Mass (Da):35,796
Checksum:i7379DD12E1B0013C
GO
Isoform PTX2A (identifier: Q99697-3) [UniParc]FASTAAdd to basket
Also known as: ARP1A

The sequence of this isoform differs from the canonical sequence as follows:
     16-61: Missing.

Show »
Length:271
Mass (Da):30,336
Checksum:i45D2ADA6DF03FF65
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti13V → L (PubMed:8944018).Curated1
Sequence conflicti13V → L (Ref. 3) Curated1
Sequence conflicti99E → Q in AAC16257 (PubMed:8944018).Curated1
Sequence conflicti127A → T in BAF84280 (PubMed:14702039).Curated1
Sequence conflicti301N → K (PubMed:8944018).Curated1
Sequence conflicti301N → K (Ref. 3) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_003763100L → Q in RIEG1. 1 PublicationCorresponds to variant rs104893857dbSNPEnsembl.1
Natural variantiVAR_035027108R → H in RDC; results in 25% loss of transactivation activity. 2 PublicationsCorresponds to variant rs104893862dbSNPEnsembl.1
Natural variantiVAR_058735110P → L in RIEG1. 2 Publications1
Natural variantiVAR_058736110P → R in RIEG1. 1 Publication1
Natural variantiVAR_003764114T → P in RIEG1. 1 PublicationCorresponds to variant rs104893858dbSNPEnsembl.1
Natural variantiVAR_003765115R → H in IRID2. 1 PublicationCorresponds to variant rs104893861dbSNPEnsembl.1
Natural variantiVAR_035028128 – 134Missing in RIEG1; more than 100-fold reduction in DNA binding activity as well as no detectable transactivation activity. 7
Natural variantiVAR_035029129V → L in RIEG1; more than 200% increase in transactivation activity. 1 PublicationCorresponds to variant rs121909249dbSNPEnsembl.1
Natural variantiVAR_003762130R → W in IRID2. 1 PublicationCorresponds to variant rs121909248dbSNPEnsembl.1
Natural variantiVAR_058737134K → E in RIEG1. 1 PublicationCorresponds to variant rs387906810dbSNPEnsembl.1
Natural variantiVAR_058738136R → C in RIEG1. 2 Publications1
Natural variantiVAR_003766137R → P in RIEG1. 1 PublicationCorresponds to variant rs104893859dbSNPEnsembl.1
Natural variantiVAR_058739151L → V in RIEG1. 1 Publication1
Natural variantiVAR_058740154N → T in RIEG1. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0022601 – 61METNC…HPGAN → MNCMKGPLHLEHRAAGTKLS AVSSSSCHHPQPLAMASVLA PGQPRSLDSSKHRLEVHTIS DTSSPEAA in isoform PTX2C. 3 PublicationsAdd BLAST61
Alternative sequenceiVSP_00226116 – 61Missing in isoform PTX2A. 3 PublicationsAdd BLAST46

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U69961 mRNA. Translation: AAC16257.1.
AF048720 mRNA. Translation: AAC39716.1.
AF048721 mRNA. Translation: AAC39717.1.
AF048722 mRNA. Translation: AAC39718.1.
AF238048 Genomic DNA. Translation: AAK15048.1.
AK127829 mRNA. Translation: BAG54582.1.
AK291591 mRNA. Translation: BAF84280.1.
AK313987 mRNA. Translation: BAG36699.1.
CH471057 Genomic DNA. Translation: EAX06262.1.
CH471057 Genomic DNA. Translation: EAX06263.1.
CH471057 Genomic DNA. Translation: EAX06264.1.
BC013998 mRNA. Translation: AAH13998.1.
BC106010 mRNA. Translation: AAI06011.1.
CCDSiCCDS3692.1. [Q99697-1]
CCDS3693.1. [Q99697-3]
CCDS3694.1. [Q99697-2]
RefSeqiNP_000316.2. NM_000325.5. [Q99697-2]
NP_001191326.1. NM_001204397.1. [Q99697-1]
NP_001191327.1. NM_001204398.1. [Q99697-1]
NP_001191328.1. NM_001204399.1. [Q99697-3]
NP_700475.1. NM_153426.2. [Q99697-1]
NP_700476.1. NM_153427.2. [Q99697-3]
XP_011530329.1. XM_011532027.2. [Q99697-3]
UniGeneiHs.643588.
Hs.738484.

Genome annotation databases

EnsembliENST00000306732; ENSP00000304169; ENSG00000164093. [Q99697-2]
ENST00000354925; ENSP00000347004; ENSG00000164093. [Q99697-1]
ENST00000355080; ENSP00000347192; ENSG00000164093. [Q99697-3]
ENST00000394598; ENSP00000378097; ENSG00000164093. [Q99697-1]
ENST00000613094; ENSP00000484763; ENSG00000164093. [Q99697-1]
ENST00000614423; ENSP00000481951; ENSG00000164093. [Q99697-1]
ENST00000616641; ENSP00000484909; ENSG00000164093. [Q99697-3]
GeneIDi5308.
KEGGihsa:5308.
UCSCiuc003iac.4. human. [Q99697-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U69961 mRNA. Translation: AAC16257.1.
AF048720 mRNA. Translation: AAC39716.1.
AF048721 mRNA. Translation: AAC39717.1.
AF048722 mRNA. Translation: AAC39718.1.
AF238048 Genomic DNA. Translation: AAK15048.1.
AK127829 mRNA. Translation: BAG54582.1.
AK291591 mRNA. Translation: BAF84280.1.
AK313987 mRNA. Translation: BAG36699.1.
CH471057 Genomic DNA. Translation: EAX06262.1.
CH471057 Genomic DNA. Translation: EAX06263.1.
CH471057 Genomic DNA. Translation: EAX06264.1.
BC013998 mRNA. Translation: AAH13998.1.
BC106010 mRNA. Translation: AAI06011.1.
CCDSiCCDS3692.1. [Q99697-1]
CCDS3693.1. [Q99697-3]
CCDS3694.1. [Q99697-2]
RefSeqiNP_000316.2. NM_000325.5. [Q99697-2]
NP_001191326.1. NM_001204397.1. [Q99697-1]
NP_001191327.1. NM_001204398.1. [Q99697-1]
NP_001191328.1. NM_001204399.1. [Q99697-3]
NP_700475.1. NM_153426.2. [Q99697-1]
NP_700476.1. NM_153427.2. [Q99697-3]
XP_011530329.1. XM_011532027.2. [Q99697-3]
UniGeneiHs.643588.
Hs.738484.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2L7FNMR-P85-144[»]
2L7MNMR-P85-144[»]
2LKXNMR-A85-144[»]
ProteinModelPortaliQ99697.
SMRiQ99697.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi111325. 18 interactors.
IntActiQ99697. 21 interactors.
STRINGi9606.ENSP00000304169.

PTM databases

iPTMnetiQ99697.
PhosphoSitePlusiQ99697.

Polymorphism and mutation databases

BioMutaiPITX2.
DMDMi6174907.

Proteomic databases

EPDiQ99697.
MaxQBiQ99697.
PaxDbiQ99697.
PeptideAtlasiQ99697.
PRIDEiQ99697.

Protocols and materials databases

DNASUi5308.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000306732; ENSP00000304169; ENSG00000164093. [Q99697-2]
ENST00000354925; ENSP00000347004; ENSG00000164093. [Q99697-1]
ENST00000355080; ENSP00000347192; ENSG00000164093. [Q99697-3]
ENST00000394598; ENSP00000378097; ENSG00000164093. [Q99697-1]
ENST00000613094; ENSP00000484763; ENSG00000164093. [Q99697-1]
ENST00000614423; ENSP00000481951; ENSG00000164093. [Q99697-1]
ENST00000616641; ENSP00000484909; ENSG00000164093. [Q99697-3]
GeneIDi5308.
KEGGihsa:5308.
UCSCiuc003iac.4. human. [Q99697-1]

Organism-specific databases

CTDi5308.
DisGeNETi5308.
GeneCardsiPITX2.
GeneReviewsiPITX2.
HGNCiHGNC:9005. PITX2.
MalaCardsiPITX2.
MIMi137600. phenotype.
180500. phenotype.
180550. phenotype.
601542. gene.
604229. phenotype.
neXtProtiNX_Q99697.
OpenTargetsiENSG00000164093.
Orphaneti98978. Axenfeld anomaly.
782. Axenfeld-Rieger syndrome.
334. Familial atrial fibrillation.
708. Peters anomaly.
91483. Rieger anomaly.
91481. Ring dermoid of cornea.
PharmGKBiPA33339.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0486. Eukaryota.
ENOG410ZZ6J. LUCA.
GeneTreeiENSGT00820000126963.
HOGENOMiHOG000273886.
HOVERGENiHBG068770.
InParanoidiQ99697.
KOiK04686.
OMAiPLNIDHH.
OrthoDBiEOG091G0H7U.
PhylomeDBiQ99697.
TreeFamiTF351940.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000164093-MONOMER.
ReactomeiR-HSA-8866906. TFAP2 (AP-2) family regulates transcription of other transcription factors.
SignaLinkiQ99697.
SIGNORiQ99697.

Miscellaneous databases

ChiTaRSiPITX2. human.
EvolutionaryTraceiQ99697.
GeneWikiiPITX2.
GenomeRNAii5308.
PROiQ99697.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000164093.
CleanExiHS_PITX2.
ExpressionAtlasiQ99697. baseline and differential.
GenevisibleiQ99697. HS.

Family and domain databases

Gene3Di1.10.10.60. 1 hit.
InterProiIPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR016233. Homeobox_Pitx/unc30.
IPR009057. Homeodomain-like.
IPR003654. OAR_dom.
[Graphical view]
PfamiPF00046. Homeobox. 1 hit.
PF03826. OAR. 1 hit.
[Graphical view]
PIRSFiPIRSF000563. Homeobox_protein_Pitx/Unc30. 1 hit.
SMARTiSM00389. HOX. 1 hit.
[Graphical view]
SUPFAMiSSF46689. SSF46689. 1 hit.
PROSITEiPS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
PS50803. OAR. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiPITX2_HUMAN
AccessioniPrimary (citable) accession number: Q99697
Secondary accession number(s): A8K6C6
, B2RA02, B3KXS0, O60578, O60579, O60580, Q3KQX9, Q9BY17
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: July 15, 1999
Last modified: November 30, 2016
This is version 181 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, Reference proteome

Documents

  1. Human chromosome 4
    Human chromosome 4: 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.