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P35452

- HXD12_HUMAN

UniProt

P35452 - HXD12_HUMAN

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Protein

Homeobox protein Hox-D12

Gene

HOXD12

Organism
Homo sapiens (Human)
Status
Reviewed - 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.

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
DNA bindingi202 – 26160HomeoboxPROSITE-ProRule annotationAdd
BLAST

GO - Molecular functioni

  1. sequence-specific DNA binding Source: InterPro

GO - Biological processi

  1. embryonic digit morphogenesis Source: Ensembl
  2. pattern specification process Source: Ensembl
  3. regulation of transcription, DNA-templated Source: UniProtKB-KW
  4. skeletal system development Source: Ensembl
  5. 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-D12
Alternative name(s):
Homeobox protein Hox-4H
Gene namesi
Name:HOXD12
Synonyms:HOX4H
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 2

Organism-specific databases

HGNCiHGNC:5135. HOXD12.

Subcellular locationi

GO - Cellular componenti

  1. nucleus Source: UniProtKB-KW
  2. transcription factor complex Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA29409.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 270270Homeobox protein Hox-D12PRO_0000200238Add
BLAST

Proteomic databases

PaxDbiP35452.
PRIDEiP35452.

PTM databases

PhosphoSiteiP35452.

Expressioni

Gene expression databases

CleanExiHS_HOXD12.
ExpressionAtlasiP35452. baseline.
GenevestigatoriP35452.

Interactioni

Protein-protein interaction databases

BioGridi109478. 6 interactions.
STRINGi9606.ENSP00000385586.

Structurei

3D structure databases

ProteinModelPortaliP35452.
SMRiP35452. Positions 203-260.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

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

Keywords - Domaini

Homeobox

Phylogenomic databases

eggNOGiNOG241833.
GeneTreeiENSGT00760000118834.
HOGENOMiHOG000231177.
HOVERGENiHBG052050.
InParanoidiP35452.
KOiK09297.
OMAiQAKFYAP.
OrthoDBiEOG73FQNH.
PhylomeDBiP35452.
TreeFamiTF351604.

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]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti33 – 4715GGQLA…SYPRG → AASLAFPLSPTRA in AAF79044. 1 PublicationCuratedAdd
BLAST
Sequence conflicti50 – 501P → S in AAI21105. (PubMed:15489334)Curated
Sequence conflicti62 – 643QPA → TC in AAF79044. 1 PublicationCurated
Sequence conflicti81 – 844GPLG → ASR in AAF79044. 1 PublicationCurated
Sequence conflicti193 – 2019LPWGAAPGR → KRCPCSPGRPAVGGGPGE in AAF79044. 1 PublicationCurated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti186 – 1861R → Q.
Corresponds to variant rs35817516 [ dbSNP | Ensembl ].
VAR_071211

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei193 – 27078LPWGA…ALALY → KRCPCSPGRFGPGWEVGFKG ECKGR in isoform 2. 1 PublicationVSP_056816Add
BLAST

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.
PIRiC39065.
RefSeqiNP_067016.3. NM_021193.3.
UniGeneiHs.450028.

Genome annotation databases

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

Polymorphism databases

DMDMi259016345.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

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 .
CCDSi CCDS46456.1.
PIRi C39065.
RefSeqi NP_067016.3. NM_021193.3.
UniGenei Hs.450028.

3D structure databases

ProteinModelPortali P35452.
SMRi P35452. Positions 203-260.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 109478. 6 interactions.
STRINGi 9606.ENSP00000385586.

PTM databases

PhosphoSitei P35452.

Polymorphism databases

DMDMi 259016345.

Proteomic databases

PaxDbi P35452.
PRIDEi P35452.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000406506 ; ENSP00000385586 ; ENSG00000170178 . [P35452-1 ]
GeneIDi 3238.
KEGGi hsa:3238.
UCSCi uc010zev.1. human. [P35452-1 ]

Organism-specific databases

CTDi 3238.
GeneCardsi GC02P176930.
H-InvDB HIX0029976.
HGNCi HGNC:5135. HOXD12.
MIMi 142988. gene.
neXtProti NX_P35452.
PharmGKBi PA29409.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG241833.
GeneTreei ENSGT00760000118834.
HOGENOMi HOG000231177.
HOVERGENi HBG052050.
InParanoidi P35452.
KOi K09297.
OMAi QAKFYAP.
OrthoDBi EOG73FQNH.
PhylomeDBi P35452.
TreeFami TF351604.

Miscellaneous databases

GeneWikii HOXD12.
GenomeRNAii 3238.
NextBioi 12887.
PROi P35452.
SOURCEi Search...

Gene expression databases

CleanExi HS_HOXD12.
ExpressionAtlasi P35452. baseline.
Genevestigatori P35452.

Family and domain databases

Gene3Di 1.10.10.60. 1 hit.
InterProi IPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR020479. Homeobox_metazoa.
IPR009057. Homeodomain-like.
[Graphical view ]
Pfami PF00046. Homeobox. 1 hit.
[Graphical view ]
PRINTSi PR00024. HOMEOBOX.
SMARTi SM00389. HOX. 1 hit.
[Graphical view ]
SUPFAMi SSF46689. SSF46689. 1 hit.
PROSITEi PS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
[Graphical view ]
ProtoNeti Search...

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 (MAY-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(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), VARIANT GLN-186.
  5. "EVX2, a human homeobox gene homologous to the even-skipped segmentation gene, is localized at the 5' end of HOX4 locus on chromosome 2."
    D'Esposito M., Morelli F., Acampora D., Migliaccio E., Simeone A., Boncinelli E.
    Genomics 10:43-50(1991) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 202-267.

Entry informationi

Entry nameiHXD12_HUMAN
AccessioniPrimary (citable) accession number: P35452
Secondary accession number(s): B5MCP0
, Q0VAD7, Q0VAD8, Q9NS03
Entry historyi
Integrated into UniProtKB/Swiss-Prot: June 1, 1994
Last sequence update: September 22, 2009
Last modified: November 26, 2014
This is version 129 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