HOXA13

Functionⁱ

Sequence-specific, AT-rich binding transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis.

Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis.

Regions

Feature key	Position(s)	DescriptionActions	Graphical view	Length
DNA bindingⁱ	322 – 381	HomeoboxPROSITE-ProRule annotationAdd BLAST		60

GO - Molecular functionⁱ

DNA binding
Source: ProtInc
Traceable author statementⁱ
- Ref.1
  "Mutation of HOXA13 in hand-foot-genital syndrome."
  Mortlock D.P., Innis J.W.
  Nat. Genet. 15:179-180(1997) [PubMed] [Europe PMC] [Abstract]
  Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
DNA-binding transcription activator activity, RNA polymerase II-specific Source: Ensembl
DNA-binding transcription factor activity, RNA polymerase II-specific Source: NTNU_SB
RNA polymerase II cis-regulatory region sequence-specific DNA binding
Source: GO_Central
Inferred from biological aspect of ancestorⁱ
- "Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium."
  Gaudet P., Livstone M.S., Lewis S.E., Thomas P.D.
  Brief Bioinform 12:449-462(2011) [PubMed] [Europe PMC] [Abstract]
sequence-specific DNA binding
Source: NTNU_SB
Inferred from direct assayⁱ
- "DNA-binding specificities of human transcription factors."
  Jolma A., Yan J., Whitington T., Toivonen J., Nitta K.R., Rastas P., Morgunova E., Enge M., Taipale M., Wei G., Palin K., Vaquerizas J.M., Vincentelli R., Luscombe N.M., Hughes T.R., Lemaire P., Ukkonen E., Kivioja T., Taipale J.
  Cell 152:327-339(2013) [PubMed] [Europe PMC] [Abstract]
sequence-specific double-stranded DNA binding
Source: ARUK-UCL
Inferred from direct assayⁱ
- "Impact of cytosine methylation on DNA binding specificities of human transcription factors."
  Yin Y., Morgunova E., Jolma A., Kaasinen E., Sahu B., Khund-Sayeed S., Das P.K., Kivioja T., Dave K., Zhong F., Nitta K.R., Taipale M., Popov A., Ginno P.A., Domcke S., Yan J., Schubeler D., Vinson C., Taipale J.
  Science 356:0-0(2017) [PubMed] [Europe PMC] [Abstract]

Complete GO annotation on QuickGO ...

GO - Biological processⁱ

Complete GO annotation on QuickGO ...

Keywordsⁱ

Molecular function	Developmental protein, DNA-binding
Biological process	Transcription, Transcription regulation

Enzyme and pathway databases

PathwayCommonsⁱ	P31271
SignaLinkⁱ	P31271
SIGNORⁱ	P31271

Names & Taxonomyⁱ

Protein namesⁱ	Recommended name: Homeobox protein Hox-A13 Alternative name(s): Homeobox protein Hox-1J
Gene namesⁱ	Name:HOXA13 Synonyms:HOX1J
Organismⁱ	Homo sapiens (Human)
Taxonomic identifierⁱ	9606 [NCBI]
Taxonomic lineageⁱ	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome 7

Organism-specific databases

Human Gene Nomenclature Database More...HGNCⁱ	HGNC:5102, HOXA13
MIMⁱ	142959, gene
neXtProtⁱ	NX_P31271
VEuPathDBⁱ	HostDB:ENSG00000106031

Keywords - Cellular componentⁱ

Nucleus

Pathology & Biotechⁱ

Involvement in diseaseⁱ

Hand-foot-genital syndrome (HFG)4 Publications

The disease is caused by variants affecting the gene represented in this entry.

Disease descriptionA disorder characterized by limb and genitourinary anomalies. Clinical features include small feet with unusually short great toes and abnormal thumbs. Females with the disorder have duplication of the genital tract.

Related information in OMIM

Feature key	Position(s)	DescriptionActions	Length
Natural variantⁱVAR_017773	125	A → AAAAAAA in HFG. 1 Publication	1
Natural variantⁱVAR_017774	129	A → AAAAAAAAA in HFG.	1
Natural variantⁱVAR_075341	368	I → F in HFG; severe phenotype overlapping with Guttmacher syndrome. 1 Publication	1
Natural variantⁱVAR_017776	372	N → H in HFG; severe. 1 PublicationCorresponds to variant dbSNP:rs121912542EnsemblClinVar.	1
Natural variantⁱVAR_075342	375	V → F in HFG. 1 Publication	1

Guttmacher syndrome (GUTTS)1 Publication

The disease is caused by variants affecting the gene represented in this entry.

Disease descriptionDominantly inherited combination of distal limb and genital tract abnormalities. It has several features in common with hand-foot-genital syndrome, including hypoplastic first digits and hypospadias. Typical features not seen in hand-foot-genital syndrome include postaxial polydactyly of the hands and uniphalangeal second toes with absent nails.

Related information in OMIM

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Natural variantⁱVAR_017775	371	Q → L in GUTTS. 1 Publication		1

Keywords - Diseaseⁱ

Disease variant

Organism-specific databases

DisGeNET More...DisGeNETⁱ	3209
GeneReviewsⁱ	HOXA13
MalaCards human disease database More...MalaCardsⁱ	HOXA13
MIMⁱ	140000, phenotype 176305, phenotype
Open Targets More...OpenTargetsⁱ	ENSG00000106031
Orphanetⁱ	2957, Guttmacher syndrome 2438, Hand-foot-genital syndrome
PharmGKBⁱ	PA29379

Miscellaneous databases

Pharosⁱ	P31271, Tbio

Pharosⁱ

P31271, Tbio

Genetic variation databases

BioMutaⁱ	HOXA13
DMDMⁱ	116242513

PTM / Processingⁱ

Molecule processing

Feature key	Position(s)	DescriptionActions	Graphical view	Length
ChainⁱPRO_0000200101	1 – 388	Homeobox protein Hox-A13Add BLAST		388

Proteomic databases

EPDⁱ	P31271
jPOSTⁱ	P31271
MassIVEⁱ	P31271
MaxQB - The MaxQuant DataBase More...MaxQBⁱ	P31271
PaxDbⁱ	P31271
PeptideAtlas More...PeptideAtlasⁱ	P31271
PRIDEⁱ	P31271
ProteomicsDBⁱ	54772

PTM databases

iPTMnetⁱ	P31271
PhosphoSitePlusⁱ	P31271

Expressionⁱ

Gene expression databases

Bgeeⁱ	ENSG00000106031, Expressed in ectocervix and 61 other tissues
Genevisibleⁱ	P31271, HS

Organism-specific databases

Human Protein Atlas More...HPAⁱ	ENSG00000106031, Tissue enhanced (cervix, placenta, prostate, seminal vesicle)

HPAⁱ

ENSG00000106031, Tissue enhanced (cervix, placenta, prostate, seminal vesicle)

Interactionⁱ

Subunit structureⁱ

Binds DNA as a homodimer.

Interacts with MEIS1, MEIS2 and MEIS3 (By similarity).

By similarity

Protein-protein interaction databases

BioGRIDⁱ	109449, 8 interactors
IntActⁱ	P31271, 2 interactors
STRINGⁱ	9606.ENSP00000222753

Miscellaneous databases

RNActⁱ	P31271, protein

RNActⁱ

P31271, protein

Structureⁱ

Secondary structure

Legend: HelixTurnBeta strandPDB Structure known for this area

Feature key	Position(s)	DescriptionActions	Length
Helixⁱ	331 – 343	Combined sources	13
Helixⁱ	349 – 359	Combined sources	11
Helixⁱ	364 – 377	Combined sources	14
Beta strandⁱ	380 – 385	Combined sources	6

Show more details

3D structure databases

BMRBⁱ	P31271
SMRⁱ	P31271
ModBaseⁱ	Search...
PDBe-KBⁱ	Search...

Family & Domainsⁱ

Sequence similaritiesⁱ

Belongs to the Abd-B homeobox family.Curated

Keywords - Domainⁱ

Homeobox

Phylogenomic databases

eggNOGⁱ	KOG0487, Eukaryota
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00940000162322
HOGENOMⁱ	CLU_059940_1_0_1
InParanoidⁱ	P31271
OMAⁱ	KNMEGFP
Database of Orthologous Groups More...OrthoDBⁱ	1190384at2759
PhylomeDBⁱ	P31271
TreeFamⁱ	TF330813

Family and domain databases

Conserved Domains Database More...CDDⁱ	cd00086, homeodomain, 1 hit
InterProⁱ	View protein in InterPro IPR009057, Homeobox-like_sf IPR017970, Homeobox_CS IPR001356, Homeobox_dom IPR022067, HoxA13_N
Pfam protein domain database More...Pfamⁱ	View protein in Pfam PF00046, Homeodomain, 1 hit PF12284, HoxA13_N, 1 hit
SMARTⁱ	View protein in SMART SM00389, HOX, 1 hit
SUPFAMⁱ	SSF46689, SSF46689, 1 hit
PROSITEⁱ	View protein in PROSITE PS00027, HOMEOBOX_1, 1 hit PS50071, HOMEOBOX_2, 1 hit

Sequenceⁱ

Sequence statusⁱ: Complete.

P31271-1 [UniParc]FASTA Add to basket

« Hide

        10         20         30         40         50
MTASVLLHPR WIEPTVMFLY DNGGGLVADE LNKNMEGAAA AAAAAAAAAA 
        60         70         80         90        100
AGAGGGGFPH PAAAAAGGNF SVAAAAAAAA AAAANQCRNL MAHPAPLAPG 
       110        120        130        140        150
AASAYSSAPG EAPPSAAAAA AAAAAAAAAA AAASSSGGPG PAGPAGAEAA 
       160        170        180        190        200
KQCSPCSAAA QSSSGPAALP YGYFGSGYYP CARMGPHPNA IKSCAQPASA 
       210        220        230        240        250
AAAAAFADKY MDTAGPAAEE FSSRAKEFAF YHQGYAAGPY HHHQPMPGYL 
       260        270        280        290        300
DMPVVPGLGG PGESRHEPLG LPMESYQPWA LPNGWNGQMY CPKEQAQPPH 
       310        320        330        340        350
LWKSTLPDVV SHPSDASSYR RGRKKRVPYT KVQLKELERE YATNKFITKD 
       360        370        380 
KRRRISATTN LSERQVTIWF QNRRVKEKKV INKLKTTS

Length:388

Mass (Da):39,727

Last modified:October 17, 2006 - v3

Checksum:ⁱ3512E7622FA931C4

GO

Experimental Info

Feature key	Position(s)	DescriptionActions	Length
Sequence conflictⁱ	146	G → A in AAC50993 (PubMed:9020844).Curated	1
Sequence conflictⁱ	187	H → P in AAC50993 (PubMed:9020844).Curated	1
Sequence conflictⁱ	195	A → P in AAC50993 (PubMed:9020844).Curated	1
Sequence conflictⁱ	198	A → P in AAC50993 (PubMed:9020844).Curated	1

Natural variant

Feature key	Position(s)	DescriptionActions	Length
Natural variantⁱVAR_017773	125	A → AAAAAAA in HFG. 1 Publication	1
Natural variantⁱVAR_017774	129	A → AAAAAAAAA in HFG.	1
Natural variantⁱVAR_075341	368	I → F in HFG; severe phenotype overlapping with Guttmacher syndrome. 1 Publication	1
Natural variantⁱVAR_017775	371	Q → L in GUTTS. 1 Publication	1
Natural variantⁱVAR_017776	372	N → H in HFG; severe. 1 PublicationCorresponds to variant dbSNP:rs121912542EnsemblClinVar.	1
Natural variantⁱVAR_075342	375	V → F in HFG. 1 Publication	1

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	U82827 Genomic DNA Translation: AAC50993.1 AC004080 Genomic DNA No translation available. CH471073 Genomic DNA Translation: EAW93890.1 CH236948 Genomic DNA Translation: EAL24218.1
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS5412.1
PIRⁱ	S14932
NCBI Reference Sequences More...RefSeqⁱ	NP_000513.2, NM_000522.4

Genome annotation databases

Ensemblⁱ	ENST00000649031; ENSP00000497112; ENSG00000106031
GeneIDⁱ	3209
KEGGⁱ	hsa:3209
MANE-Selectⁱ	ENST00000649031.1; ENSP00000497112.1; NM_000522.5; NP_000513.2
UCSC genome browser More...UCSCⁱ	uc003szb.2, human

Similar proteinsⁱ

100% Identity
90% Identity
50% Identity

Protein	Similar proteins		Species	Score	Length	Source
P31271	Homeo box A13		western gorilla		388	UniRef100_P31271
Homeobox domain-containing protein		GORGO		214
Homeo box A13 (Fragment)		western gorilla		276

Protein	Similar proteins		Species	Score	Length	Source
P31271	Homeo box A13		western gorilla		388	UniRef90_P31271
Homeobox domain-containing protein		GORGO		214
homeobox protein Hox-A13		NEOSC		311
Homeo box A13 (Fragment)		western gorilla		276

Protein	Similar proteins		Species	Score	Length	Source
P31271	Homeobox protein Hox-A13	)	MOUSE		386	UniRef50_Q62424
homeobox protein Hox-A13		MUSCR		386
Homeo box A13		RAT		386
Homeobox protein Hox-A13-like		CRIGR		387
homeobox protein Hox-A13		MESAU		261
+103

Cross-referencesⁱ

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	U82827 Genomic DNA Translation: AAC50993.1 AC004080 Genomic DNA No translation available. CH471073 Genomic DNA Translation: EAW93890.1 CH236948 Genomic DNA Translation: EAL24218.1
CCDSⁱ	CCDS5412.1
PIRⁱ	S14932
RefSeqⁱ	NP_000513.2, NM_000522.4

3D structure databases

Select the link destinations: Protein Data Bank Europe More...PDBeⁱ Protein Data Bank RCSB More...RCSB PDBⁱ Protein Data Bank Japan More...PDBjⁱ Links Updated	PDB entry	Method	Resolution (Å)	Chain	Positions	PDBsum
	2L7Z	NMR	-	A	322-388	[»]
BMRBⁱ	P31271
SMRⁱ	P31271
ModBaseⁱ	Search...
PDBe-KBⁱ	Search...

Protein-protein interaction databases

BioGRIDⁱ	109449, 8 interactors
IntActⁱ	P31271, 2 interactors
STRINGⁱ	9606.ENSP00000222753

PTM databases

iPTMnetⁱ	P31271
PhosphoSitePlusⁱ	P31271

Genetic variation databases

BioMutaⁱ	HOXA13
DMDMⁱ	116242513

Proteomic databases

EPDⁱ	P31271
jPOSTⁱ	P31271
MassIVEⁱ	P31271
MaxQBⁱ	P31271
PaxDbⁱ	P31271
PeptideAtlasⁱ	P31271
PRIDEⁱ	P31271
ProteomicsDBⁱ	54772

Protocols and materials databases

Antibodypediaⁱ	12410, 149 antibodies from 25 providers
The DNASU plasmid repository More...DNASUⁱ	3209

Genome annotation databases

Ensemblⁱ	ENST00000649031; ENSP00000497112; ENSG00000106031
GeneIDⁱ	3209
KEGGⁱ	hsa:3209
MANE-Selectⁱ	ENST00000649031.1; ENSP00000497112.1; NM_000522.5; NP_000513.2
UCSCⁱ	uc003szb.2, human

Organism-specific databases

CTDⁱ	3209
DisGeNETⁱ	3209
GeneCardsⁱ	HOXA13
GeneReviewsⁱ	HOXA13
HGNCⁱ	HGNC:5102, HOXA13
HPAⁱ	ENSG00000106031, Tissue enhanced (cervix, placenta, prostate, seminal vesicle)
MalaCardsⁱ	HOXA13
MIMⁱ	140000, phenotype 142959, gene 176305, phenotype
neXtProtⁱ	NX_P31271
OpenTargetsⁱ	ENSG00000106031
Orphanetⁱ	2957, Guttmacher syndrome 2438, Hand-foot-genital syndrome
PharmGKBⁱ	PA29379
VEuPathDBⁱ	HostDB:ENSG00000106031
GenAtlas: human gene database More...GenAtlasⁱ	Search...

Phylogenomic databases

eggNOGⁱ	KOG0487, Eukaryota
GeneTreeⁱ	ENSGT00940000162322
HOGENOMⁱ	CLU_059940_1_0_1
InParanoidⁱ	P31271
OMAⁱ	KNMEGFP
OrthoDBⁱ	1190384at2759
PhylomeDBⁱ	P31271
TreeFamⁱ	TF330813

Enzyme and pathway databases

PathwayCommonsⁱ	P31271
SignaLinkⁱ	P31271
SIGNORⁱ	P31271

Miscellaneous databases

BioGRID-ORCSⁱ	3209, 50 hits in 1062 CRISPR screens
GeneWikiⁱ	HOXA13
GenomeRNAiⁱ	3209
Pharosⁱ	P31271, Tbio
Protein Ontology More...PROⁱ	PR:P31271
RNActⁱ	P31271, protein
SOURCEⁱ	Search...

Gene expression databases

Bgeeⁱ	ENSG00000106031, Expressed in ectocervix and 61 other tissues
Genevisibleⁱ	P31271, HS

Family and domain databases

CDDⁱ	cd00086, homeodomain, 1 hit
InterProⁱ	View protein in InterPro IPR009057, Homeobox-like_sf IPR017970, Homeobox_CS IPR001356, Homeobox_dom IPR022067, HoxA13_N
Pfamⁱ	View protein in Pfam PF00046, Homeodomain, 1 hit PF12284, HoxA13_N, 1 hit
SMARTⁱ	View protein in SMART SM00389, HOX, 1 hit
SUPFAMⁱ	SSF46689, SSF46689, 1 hit
PROSITEⁱ	View protein in PROSITE PS00027, HOMEOBOX_1, 1 hit PS50071, HOMEOBOX_2, 1 hit
MobiDBⁱ	Search...

Entry informationⁱ

Entry nameⁱ	HXA13_HUMAN
Accessionⁱ	P31271Primary (citable) accession number: P31271 Secondary accession number(s): A4D188, O43371
Entry historyⁱ	Integrated into UniProtKB/Swiss-Prot:	July 1, 1993
	Last sequence update:	October 17, 2006
	Last modified:	February 23, 2022
	This is version 198 of the entry and version 3 of the sequence. See complete history.
Entry statusⁱ	Reviewed (UniProtKB/Swiss-Prot)
Annotation program	Chordata Protein Annotation Program
Disclaimer	Any 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, Reference proteome

Documents

Vertebrate homeotic Hox proteins
Nomenclature of vertebrate homeotic Hox proteins and list of entries
Human chromosome 7
Human chromosome 7: entries, gene names and cross-references to MIM
Human entries with genetic variants
List of human entries with genetic variants
Human variants curated from literature reports
Index of human variants curated from literature reports
MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
PDB cross-references
Index of Protein Data Bank (PDB) cross-references
SIMILARITY comments
Index of protein domains and families

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Supporting data

UniProtKB - P31271 (HXA13_HUMAN)

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Homeobox protein Hox-A13

Select a section on the left to see content.

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Regions

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

Enzyme and pathway databases

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

Organism-specific databases

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Nucleus

Cytoskeleton

Nucleus

Other locations

Keywords - Cellular componenti

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Keywords - Diseasei

Organism-specific databases

Miscellaneous databases

Genetic variation databases

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Proteomic databases

PTM databases

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Organism-specific databases

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

Protein-protein interaction databases

Miscellaneous databases

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

3D structure databases

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Keywords - Domaini

Phylogenomic databases

Family and domain databases

Experimental Info

Natural variant

Sequence databases

Genome annotation databases

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

3D structure databases

Protein-protein interaction databases

PTM databases

Genetic variation databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Enzyme and pathway databases

Miscellaneous databases

Gene expression databases

Family and domain databases

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Documents

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Functionⁱ

GO - Molecular functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Keywords - Cellular componentⁱ

Pathology & Biotechⁱ

Keywords - Diseaseⁱ

PTM / Processingⁱ

Expressionⁱ

Interactionⁱ

Structureⁱ

Family & Domainsⁱ

Sequence similaritiesⁱ

Keywords - Domainⁱ

Cross-referencesⁱ

Entry informationⁱ

Miscellaneousⁱ

Keywords - Technical termⁱ