P31271 (HXA13_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Homeobox protein Hox-A13

Alternative name(s):
Homeobox protein Hox-1J

Gene names

Name:	HOXA13
Synonyms:	HOX1J

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	388 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis.
Subcellular location	Nucleus.
Involvement in disease	Defects in HOXA13 are the cause of hand-foot-genital syndrome (HFGS) [MIM:140000]; also known as hand-foot-uterus syndrome. The clinical features include small feet with unusually short great toes and abnormal thumbs. Females with the disorder have duplication of the genital tract. Ref.6 Ref.7 Defects in HOXA13 are the cause of Guttmacher syndrome (GUTTS) [MIM:176305]. Guttmacher syndrome is a dominantly 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. Ref.8
Sequence similarities	Belongs to the Abd-B homeobox family. Contains 1 homeobox DNA-binding domain.

Ontologies

Keywords
Biological process	Transcription Transcription regulation
Cellular component	Nucleus
Disease	Disease mutation
Domain	Homeobox
Ligand	DNA-binding
Molecular function	Developmental protein
Technical term	3D-structure Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	skeletal system development Traceable author statement. Source: ProtInc transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW
Cellular component	nucleus Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular function	sequence-specific DNA binding Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 388	388	Homeobox protein Hox-A13		PRO_0000200101
Regions
	DNA binding	322 – 381	60	Homeobox
	Compositional bias	38 – 53	16	Poly-Ala
	Compositional bias	62 – 66	5	Poly-Ala
	Compositional bias	73 – 84	12	Poly-Ala
	Compositional bias	116 – 133	18	Poly-Ala
	Compositional bias	200 – 207	8	Poly-Ala
Natural variations
	Natural variant	125	1	A → AAAAAAA in HFGS. Ref.7		VAR_017773
	Natural variant	129	1	A → AAAAAAAAA in HFGS.		VAR_017774
	Natural variant	371	1	Q → L in GUTTS. Ref.8		VAR_017775
	Natural variant	372	1	N → H in HFGS; severe. Ref.6		VAR_017776
Experimental info
	Sequence conflict	146	1	G → A in AAC50993. Ref.1
	Sequence conflict	187	1	H → P in AAC50993. Ref.1
	Sequence conflict	195	1	A → P in AAC50993. Ref.1
	Sequence conflict	198	1	A → P in AAC50993. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	P31271 [UniParc]. Last modified October 17, 2006. Version 3. Checksum: 3512E7622FA931C4	FASTA	388	39,727
	10 20 30 40 50 60 MTASVLLHPR WIEPTVMFLY DNGGGLVADE LNKNMEGAAA AAAAAAAAAA AGAGGGGFPH 70 80 90 100 110 120 PAAAAAGGNF SVAAAAAAAA AAAANQCRNL MAHPAPLAPG AASAYSSAPG EAPPSAAAAA 130 140 150 160 170 180 AAAAAAAAAA AAASSSGGPG PAGPAGAEAA KQCSPCSAAA QSSSGPAALP YGYFGSGYYP 190 200 210 220 230 240 CARMGPHPNA IKSCAQPASA AAAAAFADKY MDTAGPAAEE FSSRAKEFAF YHQGYAAGPY 250 260 270 280 290 300 HHHQPMPGYL DMPVVPGLGG PGESRHEPLG LPMESYQPWA LPNGWNGQMY CPKEQAQPPH 310 320 330 340 350 360 LWKSTLPDVV SHPSDASSYR RGRKKRVPYT KVQLKELERE YATNKFITKD KRRRISATTN 370 380 LSERQVTIWF QNRRVKEKKV INKLKTTS

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Mutation of HOXA13 in hand-foot-genital syndrome." Mortlock D.P., Innis J.W. Nat. Genet. 15:179-180(1997) [PubMed: 9020844] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[2]	"The DNA sequence of human chromosome 7." Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H., Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K., Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A., Delehaunty K.D., Miner T.L. , Nash W.E., Cordes M., Du H., Sun H., Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A., Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P., Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M., Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S., Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R., Strowmatt C., Latreille P., Miller N., Johnson D., Murray J., Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W., Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A., Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E., Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E., Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A., Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A., Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R., McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H., Wilson R.K. Nature 424:157-164(2003) [PubMed: 12853948] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]	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. , 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 (JUL-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]	"Human chromosome 7: DNA sequence and biology." Scherer S.W., Cheung J., MacDonald J.R., Osborne L.R., Nakabayashi K., Herbrick J.-A., Carson A.R., Parker-Katiraee L., Skaug J., Khaja R., Zhang J., Hudek A.K., Li M., Haddad M., Duggan G.E., Fernandez B.A., Kanematsu E., Gentles S. , Christopoulos C.C., Choufani S., Kwasnicka D., Zheng X.H., Lai Z., Nusskern D.R., Zhang Q., Gu Z., Lu F., Zeesman S., Nowaczyk M.J., Teshima I., Chitayat D., Shuman C., Weksberg R., Zackai E.H., Grebe T.A., Cox S.R., Kirkpatrick S.J., Rahman N., Friedman J.M., Heng H.H.Q., Pelicci P.G., Lo-Coco F., Belloni E., Shaffer L.G., Pober B., Morton C.C., Gusella J.F., Bruns G.A.P., Korf B.R., Quade B.J., Ligon A.H., Ferguson H., Higgins A.W., Leach N.T., Herrick S.R., Lemyre E., Farra C.G., Kim H.-G., Summers A.M., Gripp K.W., Roberts W., Szatmari P., Winsor E.J.T., Grzeschik K.-H., Teebi A., Minassian B.A., Kere J., Armengol L., Pujana M.A., Estivill X., Wilson M.D., Koop B.F., Tosi S., Moore G.E., Boright A.P., Zlotorynski E., Kerem B., Kroisel P.M., Petek E., Oscier D.G., Mould S.J., Doehner H., Doehner K., Rommens J.M., Vincent J.B., Venter J.C., Li P.W., Mural R.J., Adams M.D., Tsui L.-C. Science 300:767-772(2003) [PubMed: 12690205] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]	"The human HOX gene family." Acampora D., D'Esposito M., Faiella A., Pannese M., Migliaccio E., Morelli F., Stornaiuolo A., Nigro V., Simeone A., Boncinelli E. Nucleic Acids Res. 17:10385-10402(1989) [PubMed: 2574852] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 322-387.
[6]	"Novel HOXA13 mutations and the phenotypic spectrum of hand-foot-genital syndrome." Goodman F.R., Bacchelli C., Brady A.F., Brueton L.A., Fryns J.-P., Mortlock D.P., Innis J.W., Holmes L.B., Donnenfeld A.E., Feingold M., Beemer F.A., Hennekam R.C.M., Scambler P.J. Am. J. Hum. Genet. 67:197-202(2000) [PubMed: 10839976] [Abstract] Cited for: VARIANTS HFGS HIS-372 AND ALA-ALA-ALA-ALA-ALA-ALA-ALA-ALA-129 INS.
[7]	"A novel stable polyalanine [poly(A)] expansion in the HOXA13 gene associated with hand-foot-genital syndrome: proper function of poly(A)-harbouring transcription factors depends on a critical repeat length?" Utsch B., Becker K., Brock D., Lentze M.J., Bidlingmaier F., Ludwig M. Hum. Genet. 110:488-494(2002) [PubMed: 12073020] [Abstract] Cited for: VARIANT HFGS ALA-ALA-ALA-ALA-ALA-ALA-125 INS.
[8]	"A HOXA13 allele with a missense mutation in the homeobox and a dinucleotide deletion in the promoter underlies Guttmacher syndrome." Innis J.W., Goodman F.R., Bacchelli C., Williams T.M., Mortlock D.P., Sateesh P., Scambler P.J., McKinnon W., Guttmacher A.E. Hum. Mutat. 19:573-574(2002) [PubMed: 11968094] [Abstract] Cited for: VARIANT GUTTS LEU-371.
+	Additional computationally mapped references.

Web resources

GeneReviews

Cross-references

Sequence databases

EMBL
GenBank
DDBJ

U82827 Genomic DNA. Translation: AAC50993.1.
AC004080 Genomic DNA. No translation available.
CH471073 Genomic DNA. Translation: EAW93890.1.
CH236948 Genomic DNA. Translation: EAL24218.1.

IPI

IPI00305850.

PIR

S14932.

RefSeq

NP_000513.2. NM_000522.4.

UniGene

Hs.592172.

3D structure databases

PDBe
RCSB PDB
PDBj

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
2L7Z	NMR	-	A	322-388	[»]

ProteinModelPortal

P31271.

SMR

P31271. Positions 322-388.

ModBase

Search...

Protein-protein interaction databases

STRING

P31271.

Polymorphism databases

DMDM

116242513.

Proteomic databases

PRIDE

P31271.

Protocols and materials databases

StructuralBiologyKnowledgebase

Search...

Genome annotation databases

Ensembl

ENST00000222753; ENSP00000222753; ENSG00000106031.

GeneID

3209.

KEGG

hsa:3209.

UCSC

uc003szb.1. human.

Organism-specific databases

CTD

3209.

GeneCards

GC07M027235.

H-InvDB

HIX0201189.

HGNC

HGNC:5102. HOXA13.

MIM

140000. phenotype.
142959. gene.
176305. phenotype.

neXtProt

NX_P31271.

Orphanet

2957. Guttmacher syndrome.
2438. Hand-foot-genital syndrome.

PharmGKB

PA29379.

GenAtlas

Search...

Phylogenomic databases

HOGENOM

HBG716010.

HOVERGEN

HBG106958.

InParanoid

P31271.

OMA

AAANQCR.

OrthoDB

EOG4J6RRD.

PhylomeDB

P31271.

Gene expression databases

ArrayExpress

P31271.

Bgee

P31271.

CleanEx

HS_HOXA13.

Genevestigator

P31271.

GermOnline

ENSG00000106031. Homo sapiens.

Family and domain databases

InterPro

IPR001356. Homeobox.
IPR017970. Homeobox_CS.
IPR009057. Homeodomain-like.
IPR012287. Homeodomain-rel.
IPR022067. HoxA13_N.
[Graphical view]

Gene3D

G3DSA:1.10.10.60. Homeodomain-rel. 1 hit.

KO

K09298.

Pfam

PF00046. Homeobox. 1 hit.
PF12284. HoxA13_N. 2 hits.
[Graphical view]

SMART

SM00389. HOX. 1 hit.
[Graphical view]

SUPFAM

SSF46689. Homeodomain_like. 1 hit.

PROSITE

PS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
[Graphical view]

ProtoNet

Search...

Other

NextBio

12770.

SOURCE

Search...

Entry information

Entry name

HXA13_HUMAN

Accession

Primary (citable) accession number: P31271
Secondary accession number(s): A4D188, O43371

Entry history

Integrated into UniProtKB/Swiss-Prot:	July 1, 1993
Last sequence update:	October 17, 2006
Last modified:	January 25, 2012
This is version 114 of the entry and version 3 of the sequence. [Complete history]

Entry status

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.