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Protein

Homeobox protein Hox-D12

Gene

HOXD12

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

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.

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.

PTM databases

iPTMnetiP35452.
PhosphoSitePlusiP35452.

Expressioni

Gene expression databases

BgeeiENSG00000170178.
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. 1 interactor.
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.
GeneTreeiENSGT00900000140879.
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

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

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

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 22, 2017
This is version 153 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. 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