Reviewed, UniProtKB/Swiss-Prot Q00056 (HXA4_HUMAN)

Names and origin

Protein names

Recommended name:
    Homeobox protein Hox-A4
Alternative name(s):
    Hox-1D
    Hox-1.4

Gene names

Name:	HOXA4
Synonyms:	HOX1D

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	320 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
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. 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'.
Subcellular location	Nucleus.
Tissue specificity	Embryonic nervous system.
Sequence similarities	Belongs to the Antp homeobox family. Deformed subfamily. Contains 1 homeobox DNA-binding domain.

Ontologies

Keywords
Biological process	Transcription Transcription regulation
Cellular component	Nucleus
Coding sequence diversity	Polymorphism
Domain	Homeobox
Ligand	DNA-binding
Molecular function	Developmental protein
Gene Ontology (GO)
Biological process	regulation of transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW transcription 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 transcription factor activity 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 – 320	320	Homeobox protein Hox-A4		PRO_0000200048
Regions
	DNA binding	215 – 274	60	Homeobox
	Motif	194 – 199	6	Antp-type hexapeptide
	Compositional bias	15 – 192	178	Pro-rich (part of the transcriptional activation domain)
Natural variations
	Natural variant	37	1	G → D in a breast cancer sample; somatic mutation. Ref.6		VAR_036266
	Natural variant	70	1	T → P: dbSNP rs6944345. Ref.1		VAR_028414
	Natural variant	140	1	L → P: dbSNP rs10251056. Ref.1		VAR_028415
	Natural variant	178	1	L → F: dbSNP rs13246088.		VAR_028416
	Natural variant	251	1	T → P: dbSNP rs6976847.		VAR_028417
	Natural variant	317	1	P → S: dbSNP rs17500757.		VAR_028418
Experimental info
	Sequence conflict	108	1	A → P in AAA58664. Ref.1
	Sequence conflict	205	1	A → S in AAA53290. Ref.5
	Sequence conflict	275 – 276	2	KL → NC in AAA53290. Ref.5

Sequences

	Sequence		Length	Mass (Da)
	Q00056-1 [UniParc]. Last modified October 17, 2006. Version 3. Checksum: D9B9C98901B06FE4	FASTA	320	34,499
	10 20 30 40 50 60 MTMSSFLINS NYIEPKFPPF EEYAQHSGSG GADGGPGGGP GYQQPPAPPT QHLPLQQPQL 70 80 90 100 110 120 PHAGGGREPT ASYYAPRTAR EPAYPAAALY PAHGAADTAY PYGYRGGASP GRPPQPEQPP 130 140 150 160 170 180 AQAKGPAHGL HASHVLQPQL PPPLQPRAVP PAAPRRCEAA PATPGVPAGG SAPACPLLLA 190 200 210 220 230 240 DKSPLGLKGK EPVVYPWMKK IHVSAVNPSY NGGEPKRSRT AYTRQQVLEL EKEFHFNRYL 250 260 270 280 290 300 TRRRRIEIAH TLCLSERQVK IWFQNRRMKW KKDHKLPNTK MRSSNSASAS AGPPGKAQTQ 310 320 SPHLHPHPHP STSTPVPSSI

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Alteration of homeobox gene expression by N-ras transformation of PA-1 human teratocarcinoma cells." Buettner R., Yim S.O., Hong Y.S., Boncinelli E., Tainsky M.A. Mol. Cell. Biol. 11:3573-3583(1991) [PubMed: 1675427] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANTS PRO-70 AND PRO-140.
[2]	"Expression of HOX homeogenes in human neuroblastoma cell culture lines." Peverali F.A., D'Esposito M., Acampora D., Bunone G., Negri M., Faiella A., Stornaiuolo A., Pannese M., Migliaccio E., Simeone A., Valle G.D., Boncinelli E. Differentiation 45:61-69(1990) [PubMed: 1981366] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[3]	"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].
[4]	"Organization of human class I homeobox genes." Boncinelli E., Acampora D., Pannese M., D'Esposito M., Somma R., Gaudino G., Stornaiuolo A., Cafiero M., Faiella A., Simeone A. Genome 31:745-756(1989) [PubMed: 2576652] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 215-280.
[5]	"Isolation, chromosomal localization, and nucleotide sequence of the human HOX 1.4 homeobox." Ferguson-Smith A.C., Fienberg A., Ruddle F.H. Genomics 5:250-258(1989) [PubMed: 2571574] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 205-277.
[6]	"The consensus coding sequences of human breast and colorectal cancers." Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E. Science 314:268-274(2006) [PubMed: 16959974] [Abstract] Cited for: VARIANT [LARGE SCALE ANALYSIS] ASP-37.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBLGenBankDDBJ	M74297 mRNA. Translation: AAA58664.1. AC004080 Genomic DNA. No translation available. M28199 Genomic DNA. Translation: AAA53290.1.
IPI	IPI00020926.
PIR	A39724.
RefSeq	NP_002132.3.
UniGene	Hs.533357 Hs.714774
3D structure databases
HSSP	HSSP built from PDB template 9ANT based on UniProtKB P02833.
SMR	Q00056. Positions 216-275.
ModBase	Search...
Proteomic databases
PeptideAtlas	Q00056.
PRIDE	Q00056.
Genome annotation databases
Ensembl	ENSG00000197576. Homo sapiens. [Contig view]
GeneID	3201.
KEGG	hsa:3201.
NMPDR	fig|9606.3.peg.28382.
Organism-specific databases
GeneCards	GC07M027134.
H-InvDB	HIX0033742.
HGNC	HGNC:5105. HOXA4.
MIM	142953. gene.
PharmGKB	PA29382.
GenAtlas	Search...
Phylogenomic databases
HOGENOM	Q00056.
HOVERGEN	Q00056.
OMA	Q00056. AYPYGYR.
Gene expression databases
ArrayExpress	Q00056.
Bgee	Q00056.
CleanEx	HS_HOXA4.
GermOnline	ENSG00000197576. Homo sapiens.
Family and domain databases
InterPro	IPR001356. Homeobox. IPR017995. Homeobox_antennapedia. IPR001827. Homeobox_Antennapedia_CS. IPR017970. Homeobox_CS. IPR012287. Homeodomain-rel. [Graphical view]
Gene3D	G3DSA:1.10.10.60. Homeodomain-rel. 1 hit.
Pfam	PF00046. Homeobox. 1 hit. [Graphical view]
PRINTS	PR00025. ANTENNAPEDIA.
ProDom	PD000010. Homeobox. 1 hit. [Graphical view] [Entries sharing at least one domain]
SMART	SM00389. HOX. 1 hit. [Graphical view]
PROSITE	PS00032. ANTENNAPEDIA. 1 hit. PS00027. HOMEOBOX_1. 1 hit. PS50071. HOMEOBOX_2. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
NextBio	12736.
SOURCE	Search...

Entry information

Entry name

HXA4_HUMAN

Accession

Primary (citable) accession number: Q00056
Secondary accession number(s): O43366

Entry history

Integrated into UniProtKB/Swiss-Prot:	December 1, 1992
Last sequence update:	October 17, 2006
Last modified:	June 16, 2009
This is version 88 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)