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Q00056

- HXA4_HUMAN

UniProt

Q00056 - HXA4_HUMAN

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Protein
Homeobox protein Hox-A4
Gene
HOXA4, HOX1D
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 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. 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'.

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
DNA bindingi215 – 27460Homeobox
Add
BLAST

GO - Molecular functioni

  1. sequence-specific DNA binding Source: InterPro
  2. sequence-specific DNA binding transcription factor activity Source: InterPro

GO - Biological processi

  1. anatomical structure morphogenesis Source: ProtInc
  2. anterior/posterior pattern specification Source: Ensembl
  3. embryonic skeletal system morphogenesis Source: Ensembl
  4. transcription, DNA-templated Source: UniProtKB-KW
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

Names & Taxonomyi

Protein namesi
Recommended name:
Homeobox protein Hox-A4
Alternative name(s):
Homeobox protein Hox-1.4
Homeobox protein Hox-1D
Gene namesi
Name:HOXA4
Synonyms:HOX1D
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 7

Organism-specific databases

HGNCiHGNC:5105. HOXA4.

Subcellular locationi

GO - Cellular componenti

  1. nucleus Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA29382.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 320320Homeobox protein Hox-A4
PRO_0000200048Add
BLAST

Proteomic databases

PaxDbiQ00056.
PeptideAtlasiQ00056.
PRIDEiQ00056.

PTM databases

PhosphoSiteiQ00056.

Expressioni

Tissue specificityi

Embryonic nervous system.

Gene expression databases

BgeeiQ00056.
CleanExiHS_HOXA4.
GenevestigatoriQ00056.

Organism-specific databases

HPAiHPA060088.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000353151.

Structurei

3D structure databases

ProteinModelPortaliQ00056.
SMRiQ00056. Positions 222-275.

Family & Domainsi

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi194 – 1996Antp-type hexapeptide

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi15 – 192178Pro-rich (part of the transcriptional activation domain)
Add
BLAST

Sequence similaritiesi

Keywords - Domaini

Homeobox

Phylogenomic databases

eggNOGiNOG257177.
HOGENOMiHOG000231179.
HOVERGENiHBG016849.
InParanoidiQ00056.
KOiK09304.
OMAiEPTASYY.
OrthoDBiEOG780RP4.
PhylomeDBiQ00056.
TreeFamiTF352857.

Family and domain databases

Gene3Di1.10.10.60. 1 hit.
InterProiIPR017995. Homeobox_antennapedia.
IPR001827. Homeobox_Antennapedia_CS.
IPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR020479. Homeobox_metazoa.
IPR009057. Homeodomain-like.
[Graphical view]
PfamiPF00046. Homeobox. 1 hit.
[Graphical view]
PRINTSiPR00025. ANTENNAPEDIA.
PR00024. HOMEOBOX.
SMARTiSM00389. HOX. 1 hit.
[Graphical view]
SUPFAMiSSF46689. SSF46689. 1 hit.
PROSITEiPS00032. ANTENNAPEDIA. 1 hit.
PS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q00056-1 [UniParc]FASTAAdd to Basket

« Hide

MTMSSFLINS NYIEPKFPPF EEYAQHSGSG GADGGPGGGP GYQQPPAPPT    50
QHLPLQQPQL PHAGGGREPT ASYYAPRTAR EPAYPAAALY PAHGAADTAY 100
PYGYRGGASP GRPPQPEQPP AQAKGPAHGL HASHVLQPQL PPPLQPRAVP 150
PAAPRRCEAA PATPGVPAGG SAPACPLLLA DKSPLGLKGK EPVVYPWMKK 200
IHVSAVNPSY NGGEPKRSRT AYTRQQVLEL EKEFHFNRYL TRRRRIEIAH 250
TLCLSERQVK IWFQNRRMKW KKDHKLPNTK MRSSNSASAS AGPPGKAQTQ 300
SPHLHPHPHP STSTPVPSSI 320
Length:320
Mass (Da):34,499
Last modified:October 17, 2006 - v3
Checksum:iD9B9C98901B06FE4
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti37 – 371G → D in a breast cancer sample; somatic mutation. 1 Publication
VAR_036266
Natural varianti70 – 701T → P.1 Publication
Corresponds to variant rs6944345 [ dbSNP | Ensembl ].
VAR_028414
Natural varianti140 – 1401L → P.1 Publication
Corresponds to variant rs10251056 [ dbSNP | Ensembl ].
VAR_028415
Natural varianti178 – 1781L → F.
Corresponds to variant rs13246088 [ dbSNP | Ensembl ].
VAR_028416
Natural varianti251 – 2511T → P.
Corresponds to variant rs6976847 [ dbSNP | Ensembl ].
VAR_028417
Natural varianti317 – 3171P → S.
Corresponds to variant rs17500757 [ dbSNP | Ensembl ].
VAR_028418

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti108 – 1081A → P in AAA58664. 1 Publication
Sequence conflicti205 – 2051A → S in AAA53290. 1 Publication
Sequence conflicti275 – 2762KL → NC in AAA53290. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSiCCDS5405.1.
PIRiA39724.
RefSeqiNP_002132.3. NM_002141.4.
UniGeneiHs.533357.
Hs.721126.

Genome annotation databases

EnsembliENST00000360046; ENSP00000353151; ENSG00000197576.
ENST00000428284; ENSP00000408845; ENSG00000197576.
GeneIDi3201.
KEGGihsa:3201.
UCSCiuc003sym.4. human.

Polymorphism databases

DMDMi116242514.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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 .
CCDSi CCDS5405.1.
PIRi A39724.
RefSeqi NP_002132.3. NM_002141.4.
UniGenei Hs.533357.
Hs.721126.

3D structure databases

ProteinModelPortali Q00056.
SMRi Q00056. Positions 222-275.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

STRINGi 9606.ENSP00000353151.

PTM databases

PhosphoSitei Q00056.

Polymorphism databases

DMDMi 116242514.

Proteomic databases

PaxDbi Q00056.
PeptideAtlasi Q00056.
PRIDEi Q00056.

Protocols and materials databases

DNASUi 3201.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000360046 ; ENSP00000353151 ; ENSG00000197576 .
ENST00000428284 ; ENSP00000408845 ; ENSG00000197576 .
GeneIDi 3201.
KEGGi hsa:3201.
UCSCi uc003sym.4. human.

Organism-specific databases

CTDi 3201.
GeneCardsi GC07M027170.
HGNCi HGNC:5105. HOXA4.
HPAi HPA060088.
MIMi 142953. gene.
neXtProti NX_Q00056.
PharmGKBi PA29382.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG257177.
HOGENOMi HOG000231179.
HOVERGENi HBG016849.
InParanoidi Q00056.
KOi K09304.
OMAi EPTASYY.
OrthoDBi EOG780RP4.
PhylomeDBi Q00056.
TreeFami TF352857.

Miscellaneous databases

GeneWikii HOXA4.
GenomeRNAii 3201.
NextBioi 12736.
PROi Q00056.
SOURCEi Search...

Gene expression databases

Bgeei Q00056.
CleanExi HS_HOXA4.
Genevestigatori Q00056.

Family and domain databases

Gene3Di 1.10.10.60. 1 hit.
InterProi IPR017995. Homeobox_antennapedia.
IPR001827. Homeobox_Antennapedia_CS.
IPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR020479. Homeobox_metazoa.
IPR009057. Homeodomain-like.
[Graphical view ]
Pfami PF00046. Homeobox. 1 hit.
[Graphical view ]
PRINTSi PR00025. ANTENNAPEDIA.
PR00024. HOMEOBOX.
SMARTi SM00389. HOX. 1 hit.
[Graphical view ]
SUPFAMi SSF46689. SSF46689. 1 hit.
PROSITEi PS00032. ANTENNAPEDIA. 1 hit.
PS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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. 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] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. 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.
    , 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. Cited for: VARIANT [LARGE SCALE ANALYSIS] ASP-37.

Entry informationi

Entry nameiHXA4_HUMAN
AccessioniPrimary (citable) accession number: Q00056
Secondary accession number(s): A4D180, O43366
Entry historyi
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 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

External Data

Dasty 3

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