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Q00056 (HXA4_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 139. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Homeobox protein Hox-A4
Alternative name(s):
Homeobox protein Hox-1.4
Homeobox protein Hox-1D
Gene names
Name:HOXA4
Synonyms:HOX1D
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length320 AA.
Sequence statusComplete.
Protein existenceEvidence 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.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 320320Homeobox protein Hox-A4
PRO_0000200048

Regions

DNA binding215 – 27460Homeobox
Motif194 – 1996Antp-type hexapeptide
Compositional bias15 – 192178Pro-rich (part of the transcriptional activation domain)

Natural variations

Natural variant371G → D in a breast cancer sample; somatic mutation. Ref.8
VAR_036266
Natural variant701T → P. Ref.1
Corresponds to variant rs6944345 [ dbSNP | Ensembl ].
VAR_028414
Natural variant1401L → P. Ref.1
Corresponds to variant rs10251056 [ dbSNP | Ensembl ].
VAR_028415
Natural variant1781L → F.
Corresponds to variant rs13246088 [ dbSNP | Ensembl ].
VAR_028416
Natural variant2511T → P.
Corresponds to variant rs6976847 [ dbSNP | Ensembl ].
VAR_028417
Natural variant3171P → S.
Corresponds to variant rs17500757 [ dbSNP | Ensembl ].
VAR_028418

Experimental info

Sequence conflict1081A → P in AAA58664. Ref.1
Sequence conflict2051A → S in AAA53290. Ref.7
Sequence conflict275 – 2762KL → NC in AAA53290. Ref.7

Sequences

Sequence LengthMass (Da)Tools
Q00056 [UniParc].

Last modified October 17, 2006. Version 3.
Checksum: D9B9C98901B06FE4

FASTA32034,499
        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 

« Hide

References

« Hide '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] [Europe PMC] [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] [Europe PMC] [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. expand/collapse author list , 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] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]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. expand/collapse author list , 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].
[5]"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. expand/collapse author list , 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] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]"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] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 215-280.
[7]"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] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 205-277.
[8]"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. expand/collapse author list , 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] [Europe PMC] [Abstract]
Cited for: VARIANT [LARGE SCALE ANALYSIS] ASP-37.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS5405.1.
PIRA39724.
RefSeqNP_002132.3. NM_002141.4.
UniGeneHs.533357.
Hs.721126.

3D structure databases

ProteinModelPortalQ00056.
SMRQ00056. Positions 222-275.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000353151.

PTM databases

PhosphoSiteQ00056.

Polymorphism databases

DMDM116242514.

Proteomic databases

PaxDbQ00056.
PeptideAtlasQ00056.
PRIDEQ00056.

Protocols and materials databases

DNASU3201.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000360046; ENSP00000353151; ENSG00000197576.
ENST00000428284; ENSP00000408845; ENSG00000197576.
GeneID3201.
KEGGhsa:3201.
UCSCuc003sym.4. human.

Organism-specific databases

CTD3201.
GeneCardsGC07M027170.
HGNCHGNC:5105. HOXA4.
HPAHPA060088.
MIM142953. gene.
neXtProtNX_Q00056.
PharmGKBPA29382.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG257177.
HOGENOMHOG000231179.
HOVERGENHBG016849.
InParanoidQ00056.
KOK09304.
OMAEPTASYY.
OrthoDBEOG780RP4.
PhylomeDBQ00056.
TreeFamTF352857.

Gene expression databases

BgeeQ00056.
CleanExHS_HOXA4.
GenevestigatorQ00056.

Family and domain databases

Gene3D1.10.10.60. 1 hit.
InterProIPR017995. Homeobox_antennapedia.
IPR001827. Homeobox_Antennapedia_CS.
IPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR020479. Homeobox_metazoa.
IPR009057. Homeodomain-like.
[Graphical view]
PfamPF00046. Homeobox. 1 hit.
[Graphical view]
PRINTSPR00025. ANTENNAPEDIA.
PR00024. HOMEOBOX.
SMARTSM00389. HOX. 1 hit.
[Graphical view]
SUPFAMSSF46689. SSF46689. 1 hit.
PROSITEPS00032. ANTENNAPEDIA. 1 hit.
PS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiHOXA4.
GenomeRNAi3201.
NextBio12736.
PROQ00056.
SOURCESearch...

Entry information

Entry nameHXA4_HUMAN
AccessionPrimary (citable) accession number: Q00056
Secondary accession number(s): A4D180, O43366
Entry history
Integrated into UniProtKB/Swiss-Prot: December 1, 1992
Last sequence update: October 17, 2006
Last modified: July 9, 2014
This is version 139 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 7

Human chromosome 7: entries, gene names and cross-references to MIM

Vertebrate homeotic Hox proteins

Nomenclature of vertebrate homeotic Hox proteins and list of entries