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P13378 (HXD8_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 141. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Homeobox protein Hox-D8
Alternative name(s):
Homeobox protein Hox-4E
Homeobox protein Hox-5.4
Gene names
Name:HOXD8
Synonyms:HOX4E
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length290 AA.
Sequence statusComplete.
Protein existenceEvidence 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 Antp homeobox family.

Contains 1 homeobox DNA-binding domain.

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: P13378-1)

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.
Isoform 2 (identifier: P13378-2)

The sequence of this isoform differs from the canonical sequence as follows:
     193-193: Missing.
Note: No experimental confirmation available.
Isoform 3 (identifier: P13378-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-184: Missing.
     252-290: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 290290Homeobox protein Hox-D8
PRO_0000200216

Regions

DNA binding197 – 25660Homeobox
Compositional bias15 – 239Poly-Ala
Compositional bias45 – 506Poly-Ala
Compositional bias109 – 12315Poly-Pro

Natural variations

Alternative sequence1 – 184184Missing in isoform 3.
VSP_045862
Alternative sequence1931Missing in isoform 2.
VSP_042856
Alternative sequence252 – 29039Missing in isoform 3.
VSP_045863

Experimental info

Sequence conflict391E → G in AAH90853. Ref.4
Sequence conflict2871G → A in CAA33529. Ref.5

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified February 21, 2001. Version 2.
Checksum: 75FF95A73E2AA85F

FASTA29031,911
        10         20         30         40         50         60 
MSSYFVNPLY SKYKAAAAAA AAAGEAINPT YYDCHFAPEV GGRHAAAAAA LQLYGNSAAG 

        70         80         90        100        110        120 
FPHAPPQAHA HPHPSPPPSG TGCGGREGRG QEYFHPGGGS PAAAYQAAPP PPPHPPPPPP 

       130        140        150        160        170        180 
PPPCGGIACH GEPAKFYGYD NLQRQPIFTT QQEAELVQYP DCKSSSGNIG EDPDHLNQSS 

       190        200        210        220        230        240 
SPSQMFPWMR PQAAPGRRRG RQTYSRFQTL ELEKEFLFNP YLTRKRRIEV SHALALTERQ 

       250        260        270        280        290 
VKIWFQNRRM KWKKENNKDK FPVSRQEVKD GETKKEAQEL EEDRAEGLTN 

« Hide

Isoform 2 [UniParc].

Checksum: 4C2621085174B447
Show »

FASTA28931,840
Isoform 3 [UniParc].

Checksum: BBA9151D54C57E6D
Show »

FASTA678,354

References

« Hide 'large scale' references
[1]"Complete mutation analysis panel of the 39 human HOX genes."
Kosaki K., Kosaki R., Suzuki T., Yoshihashi H., Takahashi T., Sasaki K., Tomita M., McGinnis W., Matsuo N.
Teratology 65:50-62(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[2]"Full-length cDNA libraries and normalization."
Li W.B., Gruber C., Jessee J., Polayes D.
Submitted (APR-2003) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
Tissue: Neuroblastoma.
[3]"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. expand/collapse author list , 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].
[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).
Tissue: Kidney and PNS.
[5]"Complementary homeo protein gradients in developing limb buds."
Oliver G., Sidell N., Fiske N., Heinzmann C., Mohandas T., Sparkes R.S., De Robertis E.M.
Genes Dev. 3:641-650(1989) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 193-287.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AY014304, AY014303 Genomic DNA. Translation: AAG42152.1.
AL520835 mRNA. No translation available.
AC009336 Genomic DNA. No translation available.
BC038709 mRNA. Translation: AAH38709.1.
BC090853 mRNA. Translation: AAH90853.1.
X15507 Genomic DNA. Translation: CAA33529.1.
CCDSCCDS2268.1. [P13378-1]
CCDS56148.1. [P13378-2]
PIRB32830.
RefSeqNP_001186675.1. NM_001199746.1. [P13378-2]
NP_062458.1. NM_019558.3. [P13378-1]
UniGeneHs.301963.
Hs.700870.

3D structure databases

ProteinModelPortalP13378.
SMRP13378. Positions 201-256.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid109474. 6 interactions.
IntActP13378. 5 interactions.
MINTMINT-7032137.
STRING9606.ENSP00000315949.

PTM databases

PhosphoSiteP13378.

Polymorphism databases

DMDM13124737.

Proteomic databases

PaxDbP13378.
PRIDEP13378.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000313173; ENSP00000315949; ENSG00000175879. [P13378-1]
ENST00000450510; ENSP00000409026; ENSG00000175879. [P13378-2]
ENST00000544999; ENSP00000437431; ENSG00000175879. [P13378-2]
GeneID3234.
KEGGhsa:3234.
UCSCuc002uko.3. human. [P13378-1]
uc002ukp.3. human. [P13378-2]

Organism-specific databases

CTD3234.
GeneCardsGC02P176994.
HGNCHGNC:5139. HOXD8.
MIM142985. gene.
neXtProtNX_P13378.
PharmGKBPA29413.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG314669.
HOGENOMHOG000231181.
HOVERGENHBG016849.
InParanoidP13378.
KOK09308.
OMAGQEYFHP.
OrthoDBEOG780RP4.
PhylomeDBP13378.
TreeFamTF316310.

Gene expression databases

ArrayExpressP13378.
BgeeP13378.
CleanExHS_HOXD8.
GenevestigatorP13378.

Family and domain databases

Gene3D1.10.10.60. 1 hit.
InterProIPR001827. Homeobox_Antennapedia_CS.
IPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR020479. Homeobox_metazoa.
IPR009057. Homeodomain-like.
[Graphical view]
PfamPF00046. Homeobox. 1 hit.
[Graphical view]
PRINTSPR00024. HOMEOBOX.
SMARTSM00389. HOX. 1 hit.
[Graphical view]
SUPFAMSSF46689. SSF46689. 1 hit.
PROSITEPS00032. ANTENNAPEDIA. 1 hit.
PS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiHOXD8.
GenomeRNAi3234.
NextBio12869.
PROP13378.
SOURCESearch...

Entry information

Entry nameHXD8_HUMAN
AccessionPrimary (citable) accession number: P13378
Secondary accession number(s): F8WBG7, Q5BL00, Q8IXZ1
Entry history
Integrated into UniProtKB/Swiss-Prot: January 1, 1990
Last sequence update: February 21, 2001
Last modified: July 9, 2014
This is version 141 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human chromosome 2

Human chromosome 2: entries, gene names and cross-references to MIM

Vertebrate homeotic Hox proteins

Nomenclature of vertebrate homeotic Hox proteins and list of entries