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Protein

Homeobox protein Hox-D1

Gene

HOXD1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

Keywordsi

Molecular functionDevelopmental protein, DNA-binding
Biological processTranscription, Transcription regulation

Enzyme and pathway databases

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

EuPathDBiHostDB:ENSG00000128645.12
HGNCiHGNC:5132 HOXD1
MIMi142987 gene
neXtProtiNX_Q9GZZ0

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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
ProteomicsDBi80181

PTM databases

iPTMnetiQ9GZZ0
PhosphoSitePlusiQ9GZZ0

Expressioni

Gene expression databases

BgeeiENSG00000128645 Expressed in 123 organ(s), highest expression level in C1 segment of cervical spinal cord
CleanExiHS_HOXD1
GenevisibleiQ9GZZ0 HS

Organism-specific databases

HPAiHPA040062
HPA056900

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

Keywords - Domaini

Homeobox

Phylogenomic databases

eggNOGiKOG0489 Eukaryota
ENOG410ZTBY LUCA
GeneTreeiENSGT00910000144005
HOGENOMiHOG000247020
HOVERGENiHBG006089
InParanoidiQ9GZZ0
KOiK09301
OMAiYLEYVSC
OrthoDBiEOG091G0LR2
PhylomeDBiQ9GZZ0
TreeFamiTF317730

Family and domain databases

CDDicd00086 homeodomain, 1 hit
InterProiView protein in InterPro
IPR009057 Homeobox-like_sf
IPR017970 Homeobox_CS
IPR001356 Homeobox_dom
IPR020479 Homeobox_metazoa
PfamiView protein in Pfam
PF00046 Homeobox, 1 hit
PRINTSiPR00024 HOMEOBOX
SMARTiView protein in SMART
SM00389 HOX, 1 hit
SUPFAMiSSF46689 SSF46689, 1 hit
PROSITEiView protein in PROSITE
PS00027 HOMEOBOX_1, 1 hit
PS50071 HOMEOBOX_2, 1 hit

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 dbSNP:rs6710142Ensembl.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

Similar proteinsi

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

PTM databases

iPTMnetiQ9GZZ0
PhosphoSitePlusiQ9GZZ0

Polymorphism and mutation databases

DMDMi17378648

Proteomic databases

PaxDbiQ9GZZ0
PeptideAtlasiQ9GZZ0
PRIDEiQ9GZZ0
ProteomicsDBi80181

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
EuPathDBiHostDB:ENSG00000128645.12
GeneCardsiHOXD1
HGNCiHGNC:5132 HOXD1
HPAiHPA040062
HPA056900
MIMi142987 gene
neXtProtiNX_Q9GZZ0
OpenTargetsiENSG00000128645
PharmGKBiPA29406
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0489 Eukaryota
ENOG410ZTBY LUCA
GeneTreeiENSGT00910000144005
HOGENOMiHOG000247020
HOVERGENiHBG006089
InParanoidiQ9GZZ0
KOiK09301
OMAiYLEYVSC
OrthoDBiEOG091G0LR2
PhylomeDBiQ9GZZ0
TreeFamiTF317730

Enzyme and pathway databases

ReactomeiR-HSA-5617472 Activation of anterior HOX genes in hindbrain development during early embryogenesis

Miscellaneous databases

ChiTaRSiHOXD1 human
GeneWikiiHOXD1
GenomeRNAii3231
PROiPR:Q9GZZ0
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000128645 Expressed in 123 organ(s), highest expression level in C1 segment of cervical spinal cord
CleanExiHS_HOXD1
GenevisibleiQ9GZZ0 HS

Family and domain databases

CDDicd00086 homeodomain, 1 hit
InterProiView protein in InterPro
IPR009057 Homeobox-like_sf
IPR017970 Homeobox_CS
IPR001356 Homeobox_dom
IPR020479 Homeobox_metazoa
PfamiView protein in Pfam
PF00046 Homeobox, 1 hit
PRINTSiPR00024 HOMEOBOX
SMARTiView protein in SMART
SM00389 HOX, 1 hit
SUPFAMiSSF46689 SSF46689, 1 hit
PROSITEiView protein in PROSITE
PS00027 HOMEOBOX_1, 1 hit
PS50071 HOMEOBOX_2, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiHXD1_HUMAN
AccessioniPrimary (citable) accession number: Q9GZZ0
Secondary accession number(s): B2RAB4
Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 26, 2001
Last sequence update: March 1, 2001
Last modified: November 7, 2018
This is version 136 of the entry and version 1 of the sequence. See 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. SIMILARITY comments
    Index of protein domains and families
  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. Vertebrate homeotic Hox proteins
    Nomenclature of vertebrate homeotic Hox proteins and list of entries
  5. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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Main funding by: National Institutes of Health

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