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Protein

Homeobox protein Hox-D1

Gene

HOXD1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 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. Acts on the anterior body structures.

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
DNA bindingi229 – 288HomeoboxPROSITE-ProRule annotationAdd BLAST60

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

Enzyme and pathway databases

BioCyciZFISH:ENSG00000128645-MONOMER.
ReactomeiR-HSA-5617472. Activation of anterior HOX genes in hindbrain development during early embryogenesis.

Names & Taxonomyi

Protein namesi
Recommended name:
Homeobox protein Hox-D1
Alternative name(s):
Homeobox protein Hox-GG
Gene namesi
Name:HOXD1
Synonyms:HOX4, HOX4G
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

HGNCiHGNC:5132. HOXD1.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

DisGeNETi3231.
OpenTargetsiENSG00000128645.
PharmGKBiPA29406.

Polymorphism and mutation databases

DMDMi17378648.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002002011 – 328Homeobox protein Hox-D1Add BLAST328

Proteomic databases

PaxDbiQ9GZZ0.
PeptideAtlasiQ9GZZ0.
PRIDEiQ9GZZ0.

Expressioni

Gene expression databases

BgeeiENSG00000128645.
CleanExiHS_HOXD1.
GenevisibleiQ9GZZ0. HS.

Interactioni

Protein-protein interaction databases

BioGridi109471. 2 interactors.
STRINGi9606.ENSP00000328598.

Structurei

3D structure databases

ProteinModelPortaliQ9GZZ0.
SMRiQ9GZZ0.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi204 – 209Antp-type hexapeptide6

Sequence similaritiesi

Belongs to the Antp homeobox family. Labial subfamily.Curated
Contains 1 homeobox DNA-binding domain.PROSITE-ProRule annotation

Keywords - Domaini

Homeobox

Phylogenomic databases

eggNOGiKOG0489. Eukaryota.
ENOG410ZTBY. LUCA.
GeneTreeiENSGT00760000118940.
HOGENOMiHOG000247020.
HOVERGENiHBG006089.
InParanoidiQ9GZZ0.
KOiK09301.
OMAiYLEYVSC.
OrthoDBiEOG091G0LR2.
PhylomeDBiQ9GZZ0.
TreeFamiTF317730.

Family and domain databases

Gene3Di1.10.10.60. 1 hit.
InterProiIPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR020479. Homeobox_metazoa.
IPR009057. Homeodomain-like.
[Graphical view]
PfamiPF00046. 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.

Q9GZZ0-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MSSYLEYVSC SSSGGVGGDV LSLAPKFCRS DARPVALQPA FPLGNGDGAF
60 70 80 90 100
VSCLPLAAAR PSPSPPAAPA RPSVPPPAAP QYAQCTLEGA YEPGAAPAAA
110 120 130 140 150
AGGADYGFLG SGPAYDFPGV LGRAADDGGS HVHYATSAVF SGGGSFLLSG
160 170 180 190 200
QVDYAAFGEP GPFPACLKAS ADGHPGAFQT ASPAPGTYPK SVSPASGLPA
210 220 230 240 250
AFSTFEWMKV KRNASKKGKL AEYGAASPSS AIRTNFSTKQ LTELEKEFHF
260 270 280 290 300
NKYLTRARRI EIANCLHLND TQVKIWFQNR RMKQKKRERE GLLATAIPVA
310 320
PLQLPLSGTT PTKFIKNPGS PSQSQEPS
Length:328
Mass (Da):34,093
Last modified:March 1, 2001 - v1
Checksum:i1B9EBBF4E2DA0301
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_034003296A → T.Corresponds to variant rs6710142dbSNPEnsembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF202118 Genomic DNA. Translation: AAG29939.1.
AF241528 mRNA. Translation: AAG44444.1.
AK314120 mRNA. Translation: BAG36811.1.
CH471058 Genomic DNA. Translation: EAX11080.1.
CCDSiCCDS2271.1.
RefSeqiNP_078777.1. NM_024501.2.
UniGeneiHs.83465.

Genome annotation databases

EnsembliENST00000331462; ENSP00000328598; ENSG00000128645.
GeneIDi3231.
KEGGihsa:3231.
UCSCiuc002ukv.5. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF202118 Genomic DNA. Translation: AAG29939.1.
AF241528 mRNA. Translation: AAG44444.1.
AK314120 mRNA. Translation: BAG36811.1.
CH471058 Genomic DNA. Translation: EAX11080.1.
CCDSiCCDS2271.1.
RefSeqiNP_078777.1. NM_024501.2.
UniGeneiHs.83465.

3D structure databases

ProteinModelPortaliQ9GZZ0.
SMRiQ9GZZ0.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi109471. 2 interactors.
STRINGi9606.ENSP00000328598.

Polymorphism and mutation databases

DMDMi17378648.

Proteomic databases

PaxDbiQ9GZZ0.
PeptideAtlasiQ9GZZ0.
PRIDEiQ9GZZ0.

Protocols and materials databases

DNASUi3231.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000331462; ENSP00000328598; ENSG00000128645.
GeneIDi3231.
KEGGihsa:3231.
UCSCiuc002ukv.5. human.

Organism-specific databases

CTDi3231.
DisGeNETi3231.
GeneCardsiHOXD1.
HGNCiHGNC:5132. HOXD1.
MIMi142987. gene.
neXtProtiNX_Q9GZZ0.
OpenTargetsiENSG00000128645.
PharmGKBiPA29406.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0489. Eukaryota.
ENOG410ZTBY. LUCA.
GeneTreeiENSGT00760000118940.
HOGENOMiHOG000247020.
HOVERGENiHBG006089.
InParanoidiQ9GZZ0.
KOiK09301.
OMAiYLEYVSC.
OrthoDBiEOG091G0LR2.
PhylomeDBiQ9GZZ0.
TreeFamiTF317730.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000128645-MONOMER.
ReactomeiR-HSA-5617472. Activation of anterior HOX genes in hindbrain development during early embryogenesis.

Miscellaneous databases

ChiTaRSiHOXD1. human.
GeneWikiiHOXD1.
GenomeRNAii3231.
PROiQ9GZZ0.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000128645.
CleanExiHS_HOXD1.
GenevisibleiQ9GZZ0. HS.

Family and domain databases

Gene3Di1.10.10.60. 1 hit.
InterProiIPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR020479. Homeobox_metazoa.
IPR009057. Homeodomain-like.
[Graphical view]
PfamiPF00046. 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...

Entry informationi

Entry nameiHXD1_HUMAN
AccessioniPrimary (citable) accession number: Q9GZZ0
Secondary accession number(s): B2RAB4
Entry historyi
Integrated into UniProtKB/Swiss-Prot: September 26, 2001
Last sequence update: March 1, 2001
Last modified: November 2, 2016
This is version 124 of the entry and version 1 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

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 one 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.