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Protein

Homeobox protein Hox-D12

Gene

HOXD12

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

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
DNA bindingi202 – 261HomeoboxPROSITE-ProRule annotationAdd BLAST60

GO - Molecular functioni

GO - Biological processi

Keywordsi

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

Enzyme and pathway databases

SIGNORiP35452

Names & Taxonomyi

Protein namesi
Recommended name:
Homeobox protein Hox-D12
Alternative name(s):
Homeobox protein Hox-4H
Gene namesi
Name:HOXD12
Synonyms:HOX4H
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

EuPathDBiHostDB:ENSG00000170178.6
HGNCiHGNC:5135 HOXD12
MIMi142988 gene
neXtProtiNX_P35452

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

DisGeNETi3238
OpenTargetsiENSG00000170178
PharmGKBiPA29409

Polymorphism and mutation databases

BioMutaiHOXD12
DMDMi259016345

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002002381 – 270Homeobox protein Hox-D12Add BLAST270

Proteomic databases

PaxDbiP35452
PeptideAtlasiP35452
PRIDEiP35452
ProteomicsDBi55064

PTM databases

iPTMnetiP35452
PhosphoSitePlusiP35452

Expressioni

Gene expression databases

BgeeiENSG00000170178 Expressed in 5 organ(s), highest expression level in ectocervix
CleanExiHS_HOXD12
ExpressionAtlasiP35452 baseline and differential
GenevisibleiP35452 HS

Organism-specific databases

HPAiHPA059444

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
TRAF1Q130773EBI-10206752,EBI-359224

Protein-protein interaction databases

BioGridi109478, 7 interactors
IntActiP35452, 8 interactors
STRINGi9606.ENSP00000385586

Structurei

3D structure databases

ProteinModelPortaliP35452
SMRiP35452
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the Abd-B homeobox family.Curated

Keywords - Domaini

Homeobox

Phylogenomic databases

eggNOGiKOG0487 Eukaryota
ENOG4111FJP LUCA
GeneTreeiENSGT00910000143984
HOGENOMiHOG000231177
HOVERGENiHBG052050
InParanoidiP35452
KOiK09297
OMAiKFYAPEA
OrthoDBiEOG091G0P35
PhylomeDBiP35452
TreeFamiTF351604

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

Sequences (2+)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 1 (identifier: P35452-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MCERSLYRAG YVGSLLNLQS PDSFYFSNLR PNGGQLAALP PISYPRGALP
60 70 80 90 100
WAATPASCAP AQPAGATAFG GFSQPYLAGS GPLGLQPPTA KDGPEEQAKF
110 120 130 140 150
YAPEAAAGPE ERGRTRPSFA PESSLAPAVA ALKAAKYDYA GVGRATPGST
160 170 180 190 200
TLLQGAPCAP GFKDDTKGPL NLNMTVQAAG VASCLRPSLP DGLPWGAAPG
210 220 230 240 250
RARKKRKPYT KQQIAELENE FLVNEFINRQ KRKELSNRLN LSDQQVKIWF
260 270
QNRRMKKKRV VLREQALALY
Length:270
Mass (Da):29,031
Last modified:September 22, 2009 - v3
Checksum:i224D53783405A162
GO
Isoform 2 (identifier: P35452-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     193-270: LPWGAAPGRA...VLREQALALY → KRCPCSPGRFGPGWEVGFKGECKGR

Show »
Length:217
Mass (Da):22,304
Checksum:i6C6A6528361AB5C1
GO

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
B5MCD3B5MCD3_HUMAN
Homeobox D12, isoform CRA_a
HOXD12 hCG_1778464
246Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti33 – 47GGQLA…SYPRG → AASLAFPLSPTRA in AAF79044 (Ref. 1) CuratedAdd BLAST15
Sequence conflicti50P → S in AAI21105 (PubMed:15489334).Curated1
Sequence conflicti62 – 64QPA → TC in AAF79044 (Ref. 1) Curated3
Sequence conflicti81 – 84GPLG → ASR in AAF79044 (Ref. 1) Curated4
Sequence conflicti193 – 201LPWGAAPGR → KRCPCSPGRPAVGGGPGE in AAF79044 (Ref. 1) Curated9

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_071211186R → Q1 PublicationCorresponds to variant dbSNP:rs35817516Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_056816193 – 270LPWGA…ALALY → KRCPCSPGRFGPGWEVGFKG ECKGR in isoform 2. 1 PublicationAdd BLAST78

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF154915 Genomic DNA Translation: AAF79044.1
AC009336 Genomic DNA No translation available.
CH471058 Genomic DNA Translation: EAX11094.1
BC121103 mRNA Translation: AAI21104.1
BC121104 mRNA Translation: AAI21105.1
CCDSiCCDS46456.1 [P35452-1]
PIRiC39065
RefSeqiNP_067016.3, NM_021193.3 [P35452-1]
UniGeneiHs.450028

Genome annotation databases

EnsembliENST00000406506; ENSP00000385586; ENSG00000170178 [P35452-1]
GeneIDi3238
KEGGihsa:3238
UCSCiuc010zev.2 human [P35452-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF154915 Genomic DNA Translation: AAF79044.1
AC009336 Genomic DNA No translation available.
CH471058 Genomic DNA Translation: EAX11094.1
BC121103 mRNA Translation: AAI21104.1
BC121104 mRNA Translation: AAI21105.1
CCDSiCCDS46456.1 [P35452-1]
PIRiC39065
RefSeqiNP_067016.3, NM_021193.3 [P35452-1]
UniGeneiHs.450028

3D structure databases

ProteinModelPortaliP35452
SMRiP35452
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi109478, 7 interactors
IntActiP35452, 8 interactors
STRINGi9606.ENSP00000385586

PTM databases

iPTMnetiP35452
PhosphoSitePlusiP35452

Polymorphism and mutation databases

BioMutaiHOXD12
DMDMi259016345

Proteomic databases

PaxDbiP35452
PeptideAtlasiP35452
PRIDEiP35452
ProteomicsDBi55064

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000406506; ENSP00000385586; ENSG00000170178 [P35452-1]
GeneIDi3238
KEGGihsa:3238
UCSCiuc010zev.2 human [P35452-1]

Organism-specific databases

CTDi3238
DisGeNETi3238
EuPathDBiHostDB:ENSG00000170178.6
GeneCardsiHOXD12
H-InvDBiHIX0029976
HGNCiHGNC:5135 HOXD12
HPAiHPA059444
MIMi142988 gene
neXtProtiNX_P35452
OpenTargetsiENSG00000170178
PharmGKBiPA29409
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0487 Eukaryota
ENOG4111FJP LUCA
GeneTreeiENSGT00910000143984
HOGENOMiHOG000231177
HOVERGENiHBG052050
InParanoidiP35452
KOiK09297
OMAiKFYAPEA
OrthoDBiEOG091G0P35
PhylomeDBiP35452
TreeFamiTF351604

Enzyme and pathway databases

SIGNORiP35452

Miscellaneous databases

GeneWikiiHOXD12
GenomeRNAii3238
PROiPR:P35452
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000170178 Expressed in 5 organ(s), highest expression level in ectocervix
CleanExiHS_HOXD12
ExpressionAtlasiP35452 baseline and differential
GenevisibleiP35452 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 nameiHXD12_HUMAN
AccessioniPrimary (citable) accession number: P35452
Secondary accession number(s): B5MCP0
, Q0VAD7, Q0VAD8, Q9NS03
Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 1, 1994
Last sequence update: September 22, 2009
Last modified: November 7, 2018
This is version 160 of the entry and version 3 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
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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