P35452 (HXD12_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Homeobox protein Hox-D12

Alternative name(s):
Homeobox protein Hox-4H

Gene names

Name:	HOXD12
Synonyms:	HOX4H

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	270 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Function	Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis.
Subcellular location	Nucleus.
Sequence similarities	Belongs to the Abd-B homeobox family. Contains 1 homeobox DNA-binding domain.

Ontologies

Keywords
Biological process	Transcription Transcription regulation
Cellular component	Nucleus
Domain	Homeobox
Ligand	DNA-binding
Molecular function	Developmental protein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	embryonic digit morphogenesis Inferred from electronic annotation. Source: Compara multicellular organismal development Non-traceable author statement. Source: UniProtKB pattern specification process Inferred from electronic annotation. Source: Compara skeletal system development Inferred from electronic annotation. Source: Compara transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW
Cellular_component	nuclear chromosome Non-traceable author statement. Source: UniProtKB transcription factor complex Inferred from electronic annotation. Source: Compara
Molecular_function	sequence-specific DNA binding Inferred from electronic annotation. Source: InterPro sequence-specific DNA binding transcription factor activity Non-traceable author statement. Source: UniProtKB
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 270	270	Homeobox protein Hox-D12		PRO_0000200238
Regions
	DNA binding	202 – 261	60	Homeobox
Experimental info
	Sequence conflict	33 – 47	15	GGQLA…SYPRG → AASLAFPLSPTRA in AAF79044. Ref.1
	Sequence conflict	62 – 64	3	QPA → TC in AAF79044. Ref.1
	Sequence conflict	81 – 84	4	GPLG → ASR in AAF79044. Ref.1
	Sequence conflict	193 – 201	9	LPWGAAPGR → KRCPCSPGRPAVGGGPGE in AAF79044. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	P35452 [UniParc]. Last modified September 22, 2009. Version 3. Checksum: 224D53783405A162	FASTA	270	29,031
	10 20 30 40 50 60 MCERSLYRAG YVGSLLNLQS PDSFYFSNLR PNGGQLAALP PISYPRGALP WAATPASCAP 70 80 90 100 110 120 AQPAGATAFG GFSQPYLAGS GPLGLQPPTA KDGPEEQAKF YAPEAAAGPE ERGRTRPSFA 130 140 150 160 170 180 PESSLAPAVA ALKAAKYDYA GVGRATPGST TLLQGAPCAP GFKDDTKGPL NLNMTVQAAG 190 200 210 220 230 240 VASCLRPSLP DGLPWGAAPG RARKKRKPYT KQQIAELENE FLVNEFINRQ KRKELSNRLN 250 260 270 LSDQQVKIWF QNRRMKKKRV VLREQALALY

References

	« Hide 'large scale' referencesShow 'large scale' references »
[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]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]	"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.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF154915 Genomic DNA. Translation: AAF79044.1. AC009336 Genomic DNA. No translation available. CH471058 Genomic DNA. Translation: EAX11094.1.
IPI	IPI00784701.
PIR	C39065.
RefSeq	NP_067016.3. NM_021193.3.
UniGene	Hs.450028.
3D structure databases
ProteinModelPortal	P35452.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000385586.
PTM databases
PhosphoSite	P35452.
Polymorphism databases
DMDM	259016345.
Proteomic databases
PaxDb	P35452.
PRIDE	P35452.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000406506; ENSP00000385586; ENSG00000170178.
GeneID	3238.
KEGG	hsa:3238.
UCSC	uc010zev.1. human.
Organism-specific databases
CTD	3238.
GeneCards	GC02P176930.
H-InvDB	HIX0029976.
HGNC	HGNC:5135. HOXD12.
MIM	142988. gene.
neXtProt	NX_P35452.
PharmGKB	PA29409.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG241833.
HOGENOM	HOG000231177.
HOVERGEN	HBG052050.
InParanoid	P35452.
KO	K09297.
OMA	PDGLPWG.
OrthoDB	EOG43N7DG.
Gene expression databases
ArrayExpress	P35452.
CleanEx	HS_HOXD12.
Genevestigator	P35452.
GermOnline	ENSG00000170178. Homo sapiens.
Family and domain databases
Gene3D	1.10.10.60. 1 hit.
InterPro	IPR017970. Homeobox_CS. IPR020479. Homeobox_metazoa. IPR001356. Homeodomain. IPR009057. Homeodomain-like. [Graphical view]
Pfam	PF00046. Homeobox. 1 hit. [Graphical view]
PRINTS	PR00024. HOMEOBOX.
SMART	SM00389. HOX. 1 hit. [Graphical view]
SUPFAM	SSF46689. Homeodomain_like. 1 hit.
PROSITE	PS00027. HOMEOBOX_1. 1 hit. PS50071. HOMEOBOX_2. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	3238.
NextBio	12887.
SOURCE	Search...

Entry information

Entry name

HXD12_HUMAN

Accession

Primary (citable) accession number: P35452
Secondary accession number(s): B5MCP0, Q9NS03

Entry history

Integrated into UniProtKB/Swiss-Prot:	June 1, 1994
Last sequence update:	September 22, 2009
Last modified:	May 1, 2013
This is version 116 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.