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Protein

Homeobox protein Hox-A1

Gene

HOXA1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein 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. Acts on the anterior body structures. Seems to act in the maintenance and/or generation of hindbrain segments.

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
DNA bindingi229 – 288HomeoboxPROSITE-ProRule annotationAdd BLAST60

GO - Molecular functioni

  • identical protein binding Source: IntAct
  • sequence-specific DNA binding Source: InterPro

GO - Biological processi

  • abducens nerve formation Source: DFLAT
  • anatomical structure morphogenesis Source: DFLAT
  • artery development Source: DFLAT
  • artery morphogenesis Source: DFLAT
  • cochlea development Source: DFLAT
  • cochlea morphogenesis Source: DFLAT
  • cognition Source: DFLAT
  • embryonic neurocranium morphogenesis Source: DFLAT
  • inner ear development Source: DFLAT
  • multicellular organism development Source: ProtInc
  • neuromuscular process Source: DFLAT
  • optokinetic behavior Source: DFLAT
  • outer ear morphogenesis Source: DFLAT
  • regulation of behavior Source: DFLAT
  • regulation of transcription, DNA-templated Source: UniProtKB-KW
  • semicircular canal formation Source: DFLAT
  • sensory perception of sound Source: DFLAT
  • 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.
SIGNORiP49639.

Names & Taxonomyi

Protein namesi
Recommended name:
Homeobox protein Hox-A1
Alternative name(s):
Homeobox protein Hox-1F
Gene namesi
Name:HOXA1
Synonyms:HOX1F
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 7

Organism-specific databases

HGNCiHGNC:5099. HOXA1.

Subcellular locationi

GO - Cellular componenti

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Athabaskan brainstem dysgenesis syndrome (ABDS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionCharacterized by horizontal gaze palsy, sensorineural deafness, central hypoventilation, and developmental delay. Some patients had swallowing dysfunction, vocal cord paralysis, facial paresis, seizures, and cardiac outflow tract anomalies.
See also OMIM:601536
Bosley-Salih-Alorainy syndrome (BSAS)
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disease characterized by horizontal gaze abnormalities, deafness, facial weakness, vascular malformations of the internal carotid arteries and cardiac outflow trac. Some patients manifest mental retardation and autism spectrum disorder. Affected individuals do not suffer from central hypoventilation.
See also OMIM:601536

Keywords - Diseasei

Autism spectrum disorder

Organism-specific databases

DisGeNETi3198.
MalaCardsiHOXA1.
MIMi601536. phenotype.
Orphaneti69739. Athabaskan brainstem dysgenesis syndrome.
69737. Bosley-Salih-Alorainy syndrome.
PharmGKBiPA29376.

Polymorphism and mutation databases

BioMutaiHOXA1.
DMDMi6166216.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002000301 – 335Homeobox protein Hox-A1Add BLAST335

Proteomic databases

PaxDbiP49639.
PeptideAtlasiP49639.
PRIDEiP49639.

PTM databases

iPTMnetiP49639.
PhosphoSitePlusiP49639.

Expressioni

Gene expression databases

BgeeiENSG00000105991.
CleanExiHS_HOXA1.
ExpressionAtlasiP49639. baseline and differential.
GenevisibleiP49639. HS.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
itself4EBI-740785,EBI-740785
ADAMTSL4Q6UY14-37EBI-740785,EBI-10173507
ALG13Q9NP73-43EBI-740785,EBI-10186621
ALPPP051874EBI-740785,EBI-1211484
AMMECR1Q9Y4X0-34EBI-740785,EBI-12823597
BLZF1Q9H2G95EBI-740785,EBI-2548012
BSCL2J3KQ124EBI-740785,EBI-11532900
CERCAMQ5T4B24EBI-740785,EBI-12261896
CHIC2Q9UKJ53EBI-740785,EBI-741528
CHRDQ9H2X03EBI-740785,EBI-947551
CNFNQ9BYD54EBI-740785,EBI-12819063
COL8A1P276584EBI-740785,EBI-747133
CYSRT1A8MQ034EBI-740785,EBI-3867333
DTX2Q86UW94EBI-740785,EBI-740376
FAM221AA4D1616EBI-740785,EBI-11960181
FOXN1O153534EBI-740785,EBI-11319000
GATA1P159763EBI-740785,EBI-3909284
GP9P147705EBI-740785,EBI-1754109
GRNP287999EBI-740785,EBI-747754
GUSBP1Q154866EBI-740785,EBI-712457
Hoxa1P090224EBI-740785,EBI-3957603From Mus musculus.
INCA1Q0VD864EBI-740785,EBI-6509505
KPRPQ5T7494EBI-740785,EBI-10981970
KRT31Q153235EBI-740785,EBI-948001
KRT37O760144EBI-740785,EBI-1045716
KRT38O760155EBI-740785,EBI-1047263
KRT40Q6A1623EBI-740785,EBI-10171697
KRT83P783854EBI-740785,EBI-10221390
KRTAP1-1Q076274EBI-740785,EBI-11959885
KRTAP1-5Q9BYS14EBI-740785,EBI-11741292
KRTAP10-11P604129EBI-740785,EBI-10217483
KRTAP10-5P603705EBI-740785,EBI-10172150
KRTAP10-8P604107EBI-740785,EBI-10171774
KRTAP10-9P604119EBI-740785,EBI-10172052
KRTAP12-1P599909EBI-740785,EBI-10210845
KRTAP12-2P599913EBI-740785,EBI-10176379
KRTAP12-3P603284EBI-740785,EBI-11953334
KRTAP12-4P603297EBI-740785,EBI-10176396
KRTAP2-4Q9BYR94EBI-740785,EBI-14065470
KRTAP26-1Q6PEX35EBI-740785,EBI-3957672
KRTAP3-2Q9BYR75EBI-740785,EBI-751260
KRTAP4-11Q9BYQ65EBI-740785,EBI-10302392
KRTAP4-12Q9BQ666EBI-740785,EBI-739863
KRTAP4-2Q9BYR57EBI-740785,EBI-10172511
KRTAP4-7Q9BYR03EBI-740785,EBI-10302547
KRTAP5-6Q6L8G99EBI-740785,EBI-10250562
KRTAP5-9P263719EBI-740785,EBI-3958099
KRTAP6-2Q3LI664EBI-740785,EBI-11962084
KRTAP9-2Q9BYQ49EBI-740785,EBI-1044640
KRTAP9-3Q9BYQ34EBI-740785,EBI-1043191
KRTAP9-4Q9BYQ23EBI-740785,EBI-10185730
KRTAP9-8Q9BYQ04EBI-740785,EBI-11958364
LCE1AQ5T7P24EBI-740785,EBI-11962058
LCE1BQ5T7P37EBI-740785,EBI-10245913
LCE1FQ5T7544EBI-740785,EBI-11958008
LCE2CQ5TA814EBI-740785,EBI-11973993
LCE2DQ5TA824EBI-740785,EBI-10246750
LCE3EQ5T5B03EBI-740785,EBI-10245456
LCE4AQ5TA787EBI-740785,EBI-10246358
LCE5AQ5TCM94EBI-740785,EBI-11955689
LGALS13Q9UHV85EBI-740785,EBI-3957707
MDFIQ997503EBI-740785,EBI-724076
N4BP2L2Q928023EBI-740785,EBI-2514973
NOTCH2NLQ7Z3S95EBI-740785,EBI-945833
NR1D2Q6NSM04EBI-740785,EBI-10250949
PBX2P404253EBI-740785,EBI-348489
PIN1Q135264EBI-740785,EBI-714158
PRNPP041564EBI-740785,EBI-977302
PROP1O753604EBI-740785,EBI-9027467
RBPMSQ930623EBI-740785,EBI-740322
RGS17Q9UGC67EBI-740785,EBI-3918154
RGS20O760813EBI-740785,EBI-1052678
RGS20O76081-63EBI-740785,EBI-10178530
SDCBPO005605EBI-740785,EBI-727004
SPRY1O436097EBI-740785,EBI-3866665
SUV39H1O434632EBI-740785,EBI-349968
TBC1D10CQ8IV045EBI-740785,EBI-10261452
TMEM57Q8N5G24EBI-740785,EBI-2683507
TRAF1Q130773EBI-740785,EBI-359224
TRIM42Q8IWZ510EBI-740785,EBI-5235829
TSPAN4O148174EBI-740785,EBI-8652667
VWC2Q2TAL64EBI-740785,EBI-11957238
VWC2LB2RUY74EBI-740785,EBI-11747707
WWOXQ9NZC7-54EBI-740785,EBI-12040603

GO - Molecular functioni

  • identical protein binding Source: IntAct

Protein-protein interaction databases

BioGridi109438. 67 interactors.
ELMiP49639.
IntActiP49639. 243 interactors.
MINTiMINT-1437157.
STRINGi9606.ENSP00000343246.

Structurei

3D structure databases

ProteinModelPortaliP49639.
SMRiP49639.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi204 – 209Antp-type hexapeptide6

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi65 – 74Poly-His10
Compositional biasi142 – 146Poly-His5
Compositional biasi314 – 317Poly-Ser4

Sequence similaritiesi

Belongs to the Antp homeobox family. Labial subfamily.Curated

Keywords - Domaini

Homeobox

Phylogenomic databases

eggNOGiKOG0489. Eukaryota.
ENOG410ZTBY. LUCA.
HOGENOMiHOG000247020.
HOVERGENiHBG006089.
InParanoidiP49639.
KOiK09301.
OrthoDBiEOG091G0LR2.
PhylomeDBiP49639.
TreeFamiTF317730.

Family and domain databases

InterProiView protein in InterPro
IPR009057. Homeobox-like.
IPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR020479. Homeobox_metazoa.
PfamiView protein in Pfam
PF00046. Homeobox. 1 hit.
PRINTSiPR00024. HOMEOBOX.
SMARTiView protein in SMART
SM00389. HOX. 1 hit.
SUPFAMiSSF46689. SSF46689. 1 hit.
PROSITEiView protein in PROSITE
PS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.

Sequences (3)i

Sequence statusi: Complete.

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

Isoform 3 (identifier: P49639-1) [UniParc]FASTAAdd to basket
Also known as: 36 kDa

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
MDNARMNSFL EYPILSSGDS GTCSARAYPS DHRITTFQSC AVSANSCGGD
60 70 80 90 100
DRFLVGRGVQ IGSPHHHHHH HHHHPQPATY QTSGNLGVSY SHSSCGPSYG
110 120 130 140 150
SQNFSAPYSP YALNQEADVS GGYPQCAPAV YSGNLSSPMV QHHHHHQGYA
160 170 180 190 200
GGAVGSPQYI HHSYGQEHQS LALATYNNSL SPLHASHQEA CRSPASETSS
210 220 230 240 250
PAQTFDWMKV KRNPPKTGKV GEYGYLGQPN AVRTNFTTKQ LTELEKEFHF
260 270 280 290 300
NKYLTRARRV EIAASLQLNE TQVKIWFQNR RMKQKKREKE GLLPISPATP
310 320 330
PGNDEKAEES SEKSSSSPCV PSPGSSTSDT LTTSH
Length:335
Mass (Da):36,641
Last modified:July 15, 1999 - v2
Checksum:i3C3A2D0A59A4181C
GO
Isoform 1 (identifier: P49639-2) [UniParc]FASTAAdd to basket
Also known as: 14 kDa

The sequence of this isoform differs from the canonical sequence as follows:
     119-137: VSGGYPQCAPAVYSGNLSS → PPRSLSLPRIGDIFSSADF
     138-335: Missing.

Note: Lacks the homeobox domain.
Show »
Length:137
Mass (Da):14,816
Checksum:i9F0067A9E6AD51DE
GO
Isoform 2 (identifier: P49639-3) [UniParc]FASTAAdd to basket
Also known as: 24 kDa

The sequence of this isoform differs from the canonical sequence as follows:
     219-227: KVGEYGYLG → QSCWLVDAP
     228-335: Missing.

Note: Lacks the homeobox domain.
Show »
Length:227
Mass (Da):24,489
Checksum:i81A54EF51FB0F033
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01030573H → R Frequent polymorphism in individuals of European or African origin. 2 PublicationsCorresponds to variant dbSNP:rs10951154Ensembl.1
Natural variantiVAR_030576189E → A. Corresponds to variant dbSNP:rs17500494Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_002376119 – 137VSGGY…GNLSS → PPRSLSLPRIGDIFSSADF in isoform 1. 1 PublicationAdd BLAST19
Alternative sequenceiVSP_002377138 – 335Missing in isoform 1. 1 PublicationAdd BLAST198
Alternative sequenceiVSP_002378219 – 227KVGEYGYLG → QSCWLVDAP in isoform 2. 1 Publication9
Alternative sequenceiVSP_002379228 – 335Missing in isoform 2. 1 PublicationAdd BLAST108

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U10421 mRNA. Translation: AAA86954.1.
AK313514 mRNA. Translation: BAG36294.1.
AC004079 Genomic DNA. Translation: AAS00374.1.
CH236948 Genomic DNA. Translation: EAL24228.1.
CH471073 Genomic DNA. Translation: EAW93861.1.
BC032547 mRNA. Translation: AAH32547.1.
U37431 mRNA. Translation: AAC50248.1.
U37431 mRNA. Translation: AAC50249.1.
U37431 mRNA. Translation: AAC50250.1.
S79869 mRNA. Translation: AAB35424.2.
S79871 mRNA. Translation: AAB35425.1.
S79910 mRNA. Translation: AAB35423.2.
CCDSiCCDS5401.1. [P49639-1]
CCDS5402.2. [P49639-2]
PIRiG01448.
RefSeqiNP_005513.1. NM_005522.4. [P49639-1]
NP_705873.2. NM_153620.2. [P49639-2]
UniGeneiHs.67397.

Genome annotation databases

EnsembliENST00000343060; ENSP00000343246; ENSG00000105991.
GeneIDi3198.
KEGGihsa:3198.
UCSCiuc003sye.4. human. [P49639-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiHXA1_HUMAN
AccessioniPrimary (citable) accession number: P49639
Secondary accession number(s): A4D184, B2R8U7, O43363
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 1, 1996
Last sequence update: July 15, 1999
Last modified: August 30, 2017
This is version 178 of the entry and version 2 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