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P78413 (IRX4_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 115. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Iroquois-class homeodomain protein IRX-4
Alternative name(s):
Homeodomain protein IRXA3
Iroquois homeobox protein 4
Gene names
Name:IRX4
Synonyms:IRXA3
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length519 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Likely to be an important mediator of ventricular differentiation during cardiac development.

Subunit structure

Interacts with the vitamin D receptor VDR but doesn't affect its transactivation activity. Ref.3

Subcellular location

Nucleus Probable.

Tissue specificity

Predominantly expressed in cardiac ventricles.

Sequence similarities

Belongs to the TALE/IRO homeobox family.

Contains 1 homeobox DNA-binding domain.

Ontologies

Keywords
   Cellular componentNucleus
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainHomeobox
   LigandDNA-binding
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processestablishment of organ orientation

Inferred from electronic annotation. Source: Ensembl

heart development

Traceable author statement Ref.1. Source: ProtInc

   Cellular_componentnucleus

Inferred from electronic annotation. Source: UniProtKB-SubCell

   Molecular_functionsequence-specific DNA binding

Inferred from electronic annotation. Source: InterPro

sequence-specific DNA binding transcription factor activity

Inferred from electronic annotation. Source: InterPro

Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: P78413-1)

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.
Isoform 2 (identifier: P78413-2)

The sequence of this isoform differs from the canonical sequence as follows:
     136-136: R → RIKRLGGHPHKGIGLDLSGLGRSPGSL

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 519519Iroquois-class homeodomain protein IRX-4
PRO_0000049157

Regions

DNA binding143 – 20462Homeobox; TALE-type
Compositional bias223 – 2286Poly-Glu
Compositional bias375 – 3828Poly-Ala

Natural variations

Alternative sequence1361R → RIKRLGGHPHKGIGLDLSGL GRSPGSL in isoform 2.
VSP_054304
Natural variant1191A → T. Ref.5
Corresponds to variant rs2232376 [ dbSNP | Ensembl ].
VAR_049583

Experimental info

Sequence conflict1811I → T in AAB50004. Ref.6

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified January 11, 2001. Version 2.
Checksum: B2FFB278BEFC5AD2

FASTA51954,445
        10         20         30         40         50         60 
MSYPQFGYPY SSAPQFLMAT NSLSTCCESG GRTLADSGPA ASAQAPVYCP VYESRLLATA 

        70         80         90        100        110        120 
RHELNSAAAL GVYGGPYGGS QGYGNYVTYG SEASAFYSLN SFDSKDGSGS AHGGLAPAAA 

       130        140        150        160        170        180 
AYYPYEPALG QYPYDRYGTM DSGTRRKNAT RETTSTLKAW LQEHRKNPYP TKGEKIMLAI 

       190        200        210        220        230        240 
ITKMTLTQVS TWFANARRRL KKENKMTWPP RNKCADEKRP YAEGEEEEGG EEEAREEPLK 

       250        260        270        280        290        300 
SSKNAEPVGK EEKELELSDL DDFDPLEAEP PACELKPPFH SLDGGLERVP AAPDGPVKEA 

       310        320        330        340        350        360 
SGALRMSLAA GGGAALDEDL ERARSCLRSA AAGPEPLPGA EGGPQVCEAK LGFVPAGASA 

       370        380        390        400        410        420 
GLEAKPRIWS LAHTATAAAA AATSLSQTEF PSCMLKRQGP AAPAAVSSAP ATSPSVALPH 

       430        440        450        460        470        480 
SGALDRHQDS PVTSLRNWVD GVFHDPILRH STLNQAWATA KGALLDPGPL GRSLGAGANV 

       490        500        510 
LTAPLARAFP PAVPQDAPAA GAARELLALP KAGGKPFCA 

« Hide

Isoform 2 [UniParc].

Checksum: 0A427E0A8DD7E77F
Show »

FASTA54557,050

References

« Hide 'large scale' references
[1]"Cardiac expression of the ventricle-specific homeobox gene Irx4 is modulated by Nkx2-5 and dHand."
Bruneau B.G., Bao Z.-Z., Tanaka M., Schott J.-J., Izumo S., Cepko C.L., Seidman J.G., Seidman C.E.
Dev. Biol. 217:266-277(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[2]"Characterization of the human homeobox two-cluster Iroquois gene family."
Hansen L., Wu Q., Tommerup N.
Submitted (JUL-2003) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[3]"IRX4 at 5p15 suppresses prostate cancer growth through the interaction with vitamin D receptor, conferring prostate cancer susceptibility."
Nguyen H.H., Takata R., Akamatsu S., Shigemizu D., Tsunoda T., Furihata M., Takahashi A., Kubo M., Kamatani N., Ogawa O., Fujioka T., Nakamura Y., Nakagawa H.
Hum. Mol. Genet. 21:2076-2085(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), ALTERNATIVE SPLICING, INTERACTION WITH VDR.
Tissue: Prostate.
[4]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT THR-119.
Tissue: Placenta.
[6]"IRX: a new family of human homeobox genes from the breast."
Lewis M.T., Strickland P.A., Ross S., Snyder C.J., Daniel C.W.
Submitted (MAR-1997) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 80-191 (ISOFORM 1).
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF124733 mRNA. Translation: AAF23887.1.
AY335941 Genomic DNA. Translation: AAQ16547.1.
AB690778 mRNA. Translation: BAL44219.1.
AB690779 mRNA. Translation: BAL44220.1.
AB690780 mRNA. Translation: BAL44221.1.
AB690781 mRNA. Translation: BAL44222.1.
CH471102 Genomic DNA. Translation: EAX08138.1.
CH471102 Genomic DNA. Translation: EAX08139.1.
BC110912 mRNA. Translation: AAI10913.1.
BC136505 mRNA. Translation: AAI36506.1.
BC136506 mRNA. Translation: AAI36507.1.
U90306 mRNA. Translation: AAB50004.1.
CCDSCCDS3867.1.
RefSeqNP_001265561.1. NM_001278632.1. [P78413-1]
NP_001265562.1. NM_001278633.1. [P78413-2]
NP_001265563.1. NM_001278634.1. [P78413-1]
NP_001265564.1. NM_001278635.1. [P78413-2]
NP_057442.1. NM_016358.2. [P78413-1]
XP_006714539.1. XM_006714476.1. [P78413-2]
UniGeneHs.196927.

3D structure databases

ProteinModelPortalP78413.
SMRP78413. Positions 151-200.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid119125. 2 interactions.
STRING9606.ENSP00000231357.

PTM databases

PhosphoSiteP78413.

Polymorphism databases

DMDM12644347.

Proteomic databases

MaxQBP78413.
PaxDbP78413.
PRIDEP78413.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000231357; ENSP00000231357; ENSG00000113430.
ENST00000505790; ENSP00000423161; ENSG00000113430.
ENST00000513692; ENSP00000424235; ENSG00000113430.
GeneID50805.
KEGGhsa:50805.
UCSCuc003jcz.2. human. [P78413-1]

Organism-specific databases

CTD50805.
GeneCardsGC05M001930.
HGNCHGNC:6129. IRX4.
MIM606199. gene.
neXtProtNX_P78413.
PharmGKBPA29927.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG310996.
HOGENOMHOG000234546.
HOVERGENHBG006180.
InParanoidP78413.
OMACELKPPF.
OrthoDBEOG7J1802.
PhylomeDBP78413.

Gene expression databases

ArrayExpressP78413.
BgeeP78413.
CleanExHS_IRX4.
GenevestigatorP78413.

Family and domain databases

Gene3D1.10.10.60. 1 hit.
InterProIPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR008422. Homeobox_KN_domain.
IPR009057. Homeodomain-like.
IPR003893. Iroquois_homeo.
[Graphical view]
PfamPF05920. Homeobox_KN. 1 hit.
[Graphical view]
SMARTSM00389. HOX. 1 hit.
SM00548. IRO. 1 hit.
[Graphical view]
SUPFAMSSF46689. SSF46689. 1 hit.
PROSITEPS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiIRX4.
GenomeRNAi50805.
NextBio35525178.
PROP78413.
SOURCESearch...

Entry information

Entry nameIRX4_HUMAN
AccessionPrimary (citable) accession number: P78413
Secondary accession number(s): B2RMW5 expand/collapse secondary AC list , D3DTC5, H1AFL0, H1AFL1, Q2NL64, Q9UHR2
Entry history
Integrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: January 11, 2001
Last modified: July 9, 2014
This is version 115 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 5

Human chromosome 5: entries, gene names and cross-references to MIM