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Protein

Homeobox protein Hox-A4

Gene

HOXA4

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at transcript leveli

Functioni

Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. Binds to sites in the 5'-flanking sequence of its coding region with various affinities. The consensus sequences of the high and low affinity binding sites are 5'-TAATGA[CG]-3' and 5'-CTAATTTT-3'.

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
DNA bindingi215 – 274HomeoboxPROSITE-ProRule annotationAdd BLAST60

GO - Molecular functioni

GO - Biological processi

  • anatomical structure morphogenesis Source: ProtInc
  • multicellular organism development Source: UniProtKB-KW
  • transcription, DNA-templated Source: UniProtKB-KW

Keywordsi

Molecular functionDevelopmental protein, DNA-binding
Biological processTranscription, Transcription regulation

Enzyme and pathway databases

ReactomeiR-HSA-5617472. Activation of anterior HOX genes in hindbrain development during early embryogenesis.

Names & Taxonomyi

Protein namesi
Recommended name:
Homeobox protein Hox-A4
Alternative name(s):
Homeobox protein Hox-1.4
Homeobox protein Hox-1D
Gene namesi
Name:HOXA4
Synonyms:HOX1D
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 7

Organism-specific databases

EuPathDBiHostDB:ENSG00000197576.13.
HGNCiHGNC:5105. HOXA4.

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

DisGeNETi3201.
OpenTargetsiENSG00000197576.
PharmGKBiPA29382.

Polymorphism and mutation databases

BioMutaiHOXA4.
DMDMi116242514.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002000481 – 320Homeobox protein Hox-A4Add BLAST320

Proteomic databases

MaxQBiQ00056.
PaxDbiQ00056.
PeptideAtlasiQ00056.
PRIDEiQ00056.

PTM databases

iPTMnetiQ00056.
PhosphoSitePlusiQ00056.

Expressioni

Tissue specificityi

Embryonic nervous system.

Gene expression databases

BgeeiENSG00000197576.
CleanExiHS_HOXA4.
ExpressionAtlasiQ00056. baseline and differential.
GenevisibleiQ00056. HS.

Organism-specific databases

HPAiHPA060088.

Interactioni

Protein-protein interaction databases

BioGridi109441. 1 interactor.
STRINGi9606.ENSP00000353151.

Structurei

3D structure databases

ProteinModelPortaliQ00056.
SMRiQ00056.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi194 – 199Antp-type hexapeptide6

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi15 – 192Pro-rich (part of the transcriptional activation domain)Add BLAST178

Sequence similaritiesi

Keywords - Domaini

Homeobox

Phylogenomic databases

eggNOGiKOG0489. Eukaryota.
ENOG410ZTBY. LUCA.
GeneTreeiENSGT00900000140772.
HOGENOMiHOG000231179.
HOVERGENiHBG016849.
InParanoidiQ00056.
KOiK09304.
OMAiYYAPRTA.
OrthoDBiEOG091G09XD.
PhylomeDBiQ00056.
TreeFamiTF352857.

Family and domain databases

CDDicd00086. homeodomain. 1 hit.
InterProiView protein in InterPro
IPR009057. Homeobox-like_sf.
IPR017995. Homeobox_antennapedia.
IPR001827. Homeobox_Antennapedia_CS.
IPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR020479. Homeobox_metazoa.
PfamiView protein in Pfam
PF00046. Homeobox. 1 hit.
PRINTSiPR00025. ANTENNAPEDIA.
PR00024. HOMEOBOX.
SMARTiView protein in SMART
SM00389. HOX. 1 hit.
SUPFAMiSSF46689. SSF46689. 1 hit.
PROSITEiView protein in PROSITE
PS00032. ANTENNAPEDIA. 1 hit.
PS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.

Sequencei

Sequence statusi: Complete.

Q00056-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MTMSSFLINS NYIEPKFPPF EEYAQHSGSG GADGGPGGGP GYQQPPAPPT
60 70 80 90 100
QHLPLQQPQL PHAGGGREPT ASYYAPRTAR EPAYPAAALY PAHGAADTAY
110 120 130 140 150
PYGYRGGASP GRPPQPEQPP AQAKGPAHGL HASHVLQPQL PPPLQPRAVP
160 170 180 190 200
PAAPRRCEAA PATPGVPAGG SAPACPLLLA DKSPLGLKGK EPVVYPWMKK
210 220 230 240 250
IHVSAVNPSY NGGEPKRSRT AYTRQQVLEL EKEFHFNRYL TRRRRIEIAH
260 270 280 290 300
TLCLSERQVK IWFQNRRMKW KKDHKLPNTK MRSSNSASAS AGPPGKAQTQ
310 320
SPHLHPHPHP STSTPVPSSI
Length:320
Mass (Da):34,499
Last modified:October 17, 2006 - v3
Checksum:iD9B9C98901B06FE4
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti108A → P in AAA58664 (PubMed:1675427).Curated1
Sequence conflicti205A → S in AAA53290 (PubMed:2571574).Curated1
Sequence conflicti275 – 276KL → NC in AAA53290 (PubMed:2571574).Curated2

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03626637G → D in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_02841470T → P1 PublicationCorresponds to variant dbSNP:rs6944345Ensembl.1
Natural variantiVAR_028415140L → P1 PublicationCorresponds to variant dbSNP:rs10251056Ensembl.1
Natural variantiVAR_028416178L → F. Corresponds to variant dbSNP:rs13246088Ensembl.1
Natural variantiVAR_028417251T → P. Corresponds to variant dbSNP:rs6976847Ensembl.1
Natural variantiVAR_028418317P → S. Corresponds to variant dbSNP:rs17500757Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M74297 mRNA. Translation: AAA58664.1.
AC004080 Genomic DNA. No translation available.
CH471073 Genomic DNA. Translation: EAW93872.1.
CH236948 Genomic DNA. Translation: EAL24224.1.
M28199 Genomic DNA. Translation: AAA53290.1.
CCDSiCCDS5405.1.
PIRiA39724.
RefSeqiNP_002132.3. NM_002141.4.
UniGeneiHs.533357.
Hs.721126.

Genome annotation databases

EnsembliENST00000360046; ENSP00000353151; ENSG00000197576.
ENST00000428284; ENSP00000408845; ENSG00000197576.
ENST00000610970; ENSP00000479166; ENSG00000197576.
GeneIDi3201.
KEGGihsa:3201.
UCSCiuc003sym.4. human.

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiHXA4_HUMAN
AccessioniPrimary (citable) accession number: Q00056
Secondary accession number(s): A4D180, O43366
Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 1, 1992
Last sequence update: October 17, 2006
Last modified: November 22, 2017
This is version 163 of the entry and version 3 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

Documents

  1. Vertebrate homeotic Hox proteins
    Nomenclature of vertebrate homeotic Hox proteins and list of entries
  2. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. SIMILARITY comments
    Index of protein domains and families