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Protein

Homeobox protein Hox-D11

Gene

HOXD11

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at transcript 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.

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
DNA bindingi266 – 32560HomeoboxPROSITE-ProRule annotationAdd
BLAST

GO - Molecular functioni

  1. sequence-specific DNA binding Source: InterPro

GO - Biological processi

  1. anterior/posterior pattern specification Source: Ensembl
  2. branching involved in ureteric bud morphogenesis Source: UniProtKB
  3. cartilage development involved in endochondral bone morphogenesis Source: Ensembl
  4. developmental growth Source: Ensembl
  5. dorsal/ventral pattern formation Source: UniProtKB
  6. embryonic digit morphogenesis Source: Ensembl
  7. embryonic forelimb morphogenesis Source: Ensembl
  8. embryonic skeletal joint morphogenesis Source: Ensembl
  9. metanephros development Source: Ensembl
  10. organ induction Source: Ensembl
  11. positive regulation of cell development Source: Ensembl
  12. positive regulation of chondrocyte differentiation Source: Ensembl
  13. proximal/distal pattern formation Source: Ensembl
  14. regulation of transcription, DNA-templated Source: UniProtKB-KW
  15. single fertilization Source: Ensembl
  16. 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-D11
Alternative name(s):
Homeobox protein Hox-4F
Gene namesi
Name:HOXD11
Synonyms:HOX4F
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640 Componenti: Chromosome 2

Organism-specific databases

HGNCiHGNC:5134. HOXD11.

Subcellular locationi

GO - Cellular componenti

  1. nucleoplasm Source: HPA
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA29408.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 338338Homeobox protein Hox-D11PRO_0000200231Add
BLAST

Proteomic databases

PaxDbiP31277.
PRIDEiP31277.

Expressioni

Gene expression databases

BgeeiP31277.
CleanExiHS_HOXD11.
GenevestigatoriP31277.

Interactioni

Protein-protein interaction databases

BioGridi109477. 1 interaction.
STRINGi9606.ENSP00000249504.

Structurei

3D structure databases

ProteinModelPortaliP31277.
SMRiP31277. Positions 266-325.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi90 – 10213Poly-GlyAdd
BLAST
Compositional biasi108 – 12013Poly-AlaAdd
BLAST

Sequence similaritiesi

Belongs to the Abd-B homeobox family.Curated
Contains 1 homeobox DNA-binding domain.PROSITE-ProRule annotation

Keywords - Domaini

Homeobox

Phylogenomic databases

eggNOGiNOG305087.
GeneTreeiENSGT00760000118834.
HOGENOMiHOG000231898.
HOVERGENiHBG052048.
InParanoidiP31277.
KOiK09296.
OMAiFYETAPG.
OrthoDBiEOG7ZWD2F.
PhylomeDBiP31277.
TreeFamiTF350668.

Family and domain databases

Gene3Di1.10.10.60. 1 hit.
InterProiIPR021918. DUF3528.
IPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR020479. Homeobox_metazoa.
IPR009057. Homeodomain-like.
[Graphical view]
PfamiPF12045. DUF3528. 1 hit.
PF00046. Homeobox. 1 hit.
[Graphical view]
PRINTSiPR00024. HOMEOBOX.
SMARTiSM00389. HOX. 1 hit.
[Graphical view]
SUPFAMiSSF46689. SSF46689. 1 hit.
PROSITEiPS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

P31277-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MNDFDECGQS AASMYLPGCA YYVAPSDFAS KPSFLSQPSS CQMTFPYSSN
60 70 80 90 100
LAPHVQPVRE VAFRDYGLER AKWPYRGGGG GGSAGGGSSG GGPGGGGGGA
110 120 130 140 150
GGYAPYYAAA AAAAAAAAAA EEAAMQRELL PPAGRRPDVL FKAPEPVCAA
160 170 180 190 200
PGPPHGPAGA ASNFYSAVGR NGILPQGFDQ FYEAAPGPPF AGPQPPPPPA
210 220 230 240 250
PPQPEGAADK GDPRTGAGGG GGSPCTKATP GSEPKGAAEG SGGDGEGPPG
260 270 280 290 300
EAGAEKSSSA VAPQRSRKKR CPYTKYQIRE LEREFFFNVY INKEKRLQLS
310 320 330
RMLNLTDRQV KIWFQNRRMK EKKLNRDRLQ YFTGNPLF
Length:338
Mass (Da):35,197
Last modified:February 10, 2009 - v3
Checksum:i2960C3C983EA9A6A
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti196 – 20510PPPPAPPQPE → RRHPRRHSPM in AAF79045 (Ref. 1) Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti245 – 2451G → D.1 Publication
VAR_031647

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF154915 Genomic DNA. Translation: AAF79045.1.
AC009336 Genomic DNA. No translation available.
CCDSiCCDS2265.1.
PIRiS14938.
RefSeqiNP_067015.2. NM_021192.2.
UniGeneiHs.421136.

Genome annotation databases

EnsembliENST00000249504; ENSP00000249504; ENSG00000128713.
GeneIDi3237.
KEGGihsa:3237.
UCSCiuc002uki.3. human.

Polymorphism databases

DMDMi223590220.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF154915 Genomic DNA. Translation: AAF79045.1.
AC009336 Genomic DNA. No translation available.
CCDSiCCDS2265.1.
PIRiS14938.
RefSeqiNP_067015.2. NM_021192.2.
UniGeneiHs.421136.

3D structure databases

ProteinModelPortaliP31277.
SMRiP31277. Positions 266-325.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi109477. 1 interaction.
STRINGi9606.ENSP00000249504.

Polymorphism databases

DMDMi223590220.

Proteomic databases

PaxDbiP31277.
PRIDEiP31277.

Protocols and materials databases

DNASUi3237.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000249504; ENSP00000249504; ENSG00000128713.
GeneIDi3237.
KEGGihsa:3237.
UCSCiuc002uki.3. human.

Organism-specific databases

CTDi3237.
GeneCardsiGC02P176936.
HGNCiHGNC:5134. HOXD11.
MIMi142986. gene.
neXtProtiNX_P31277.
PharmGKBiPA29408.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG305087.
GeneTreeiENSGT00760000118834.
HOGENOMiHOG000231898.
HOVERGENiHBG052048.
InParanoidiP31277.
KOiK09296.
OMAiFYETAPG.
OrthoDBiEOG7ZWD2F.
PhylomeDBiP31277.
TreeFamiTF350668.

Miscellaneous databases

ChiTaRSiHOXD11. human.
GeneWikiiHOXD11.
GenomeRNAii3237.
NextBioi12883.
PROiP31277.
SOURCEiSearch...

Gene expression databases

BgeeiP31277.
CleanExiHS_HOXD11.
GenevestigatoriP31277.

Family and domain databases

Gene3Di1.10.10.60. 1 hit.
InterProiIPR021918. DUF3528.
IPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR020479. Homeobox_metazoa.
IPR009057. Homeodomain-like.
[Graphical view]
PfamiPF12045. DUF3528. 1 hit.
PF00046. Homeobox. 1 hit.
[Graphical view]
PRINTSiPR00024. HOMEOBOX.
SMARTiSM00389. HOX. 1 hit.
[Graphical view]
SUPFAMiSSF46689. SSF46689. 1 hit.
PROSITEiPS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "The role of HOXD11 and HOXD12 for the mesomelic dysplasia Kantaptra type."
    Miwa N., Yoshiura K., Kantaputra P.K., Soeda E., Niikawa N.
    Submitted (APR-1999) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  2. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
    Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
    , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
    Nature 434:724-731(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 266-331.
  4. "Mutations in HOXD13 underlie syndactyly type V and a novel brachydactyly-syndactyly syndrome."
    Zhao X., Sun M., Zhao J., Leyva J.A., Zhu H., Yang W., Zeng X., Ao Y., Liu Q., Liu G., Lo W.H.Y., Jabs E.W., Amzel L.M., Shan X., Zhang X.
    Am. J. Hum. Genet. 80:361-371(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT ASP-245.

Entry informationi

Entry nameiHXD11_HUMAN
AccessioniPrimary (citable) accession number: P31277
Secondary accession number(s): A6NIS4, Q9NS02
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 1, 1993
Last sequence update: February 10, 2009
Last modified: February 4, 2015
This is version 135 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 2
    Human chromosome 2: 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.