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P13378

- HXD8_HUMAN

UniProt

P13378 - HXD8_HUMAN

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Protein

Homeobox protein Hox-D8

Gene
HOXD8, HOX4E
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 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 bindingi197 – 25660HomeoboxAdd
BLAST

GO - Molecular functioni

  1. sequence-specific DNA binding Source: InterPro
  2. sequence-specific DNA binding transcription factor activity Source: InterPro

GO - Biological processi

  1. anterior/posterior axis specification, embryo Source: UniProtKB
  2. negative regulation of transcription from RNA polymerase II promoter Source: Ensembl
  3. skeletal system morphogenesis Source: Ensembl
  4. 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-D8
Alternative name(s):
Homeobox protein Hox-4E
Homeobox protein Hox-5.4
Gene namesi
Name:HOXD8
Synonyms:HOX4E
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 2

Organism-specific databases

HGNCiHGNC:5139. HOXD8.

Subcellular locationi

GO - Cellular componenti

  1. nucleus Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA29413.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 290290Homeobox protein Hox-D8PRO_0000200216Add
BLAST

Proteomic databases

PaxDbiP13378.
PRIDEiP13378.

PTM databases

PhosphoSiteiP13378.

Expressioni

Gene expression databases

ArrayExpressiP13378.
BgeeiP13378.
CleanExiHS_HOXD8.
GenevestigatoriP13378.

Interactioni

Protein-protein interaction databases

BioGridi109474. 6 interactions.
IntActiP13378. 5 interactions.
MINTiMINT-7032137.
STRINGi9606.ENSP00000315949.

Structurei

3D structure databases

ProteinModelPortaliP13378.
SMRiP13378. Positions 201-256.

Family & Domainsi

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi15 – 239Poly-Ala
Compositional biasi45 – 506Poly-Ala
Compositional biasi109 – 12315Poly-ProAdd
BLAST

Sequence similaritiesi

Belongs to the Antp homeobox family.

Keywords - Domaini

Homeobox

Phylogenomic databases

eggNOGiNOG314669.
HOGENOMiHOG000231181.
HOVERGENiHBG016849.
InParanoidiP13378.
KOiK09308.
OMAiGQEYFHP.
OrthoDBiEOG780RP4.
PhylomeDBiP13378.
TreeFamiTF316310.

Family and domain databases

Gene3Di1.10.10.60. 1 hit.
InterProiIPR001827. Homeobox_Antennapedia_CS.
IPR017970. 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.
PROSITEiPS00032. ANTENNAPEDIA. 1 hit.
PS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: P13378-1) [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

MSSYFVNPLY SKYKAAAAAA AAAGEAINPT YYDCHFAPEV GGRHAAAAAA    50
LQLYGNSAAG FPHAPPQAHA HPHPSPPPSG TGCGGREGRG QEYFHPGGGS 100
PAAAYQAAPP PPPHPPPPPP PPPCGGIACH GEPAKFYGYD NLQRQPIFTT 150
QQEAELVQYP DCKSSSGNIG EDPDHLNQSS SPSQMFPWMR PQAAPGRRRG 200
RQTYSRFQTL ELEKEFLFNP YLTRKRRIEV SHALALTERQ VKIWFQNRRM 250
KWKKENNKDK FPVSRQEVKD GETKKEAQEL EEDRAEGLTN 290
Length:290
Mass (Da):31,911
Last modified:February 21, 2001 - v2
Checksum:i75FF95A73E2AA85F
GO
Isoform 2 (identifier: P13378-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     193-193: Missing.

Note: No experimental confirmation available.

Show »
Length:289
Mass (Da):31,840
Checksum:i4C2621085174B447
GO
Isoform 3 (identifier: P13378-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-184: Missing.
     252-290: Missing.

Note: No experimental confirmation available.

Show »
Length:67
Mass (Da):8,354
Checksum:iBBA9151D54C57E6D
GO

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 184184Missing in isoform 3. VSP_045862Add
BLAST
Alternative sequencei193 – 1931Missing in isoform 2. VSP_042856
Alternative sequencei252 – 29039Missing in isoform 3. VSP_045863Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti39 – 391E → G in AAH90853. 1 Publication
Sequence conflicti287 – 2871G → A in CAA33529. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSiCCDS2268.1. [P13378-1]
CCDS56148.1. [P13378-2]
PIRiB32830.
RefSeqiNP_001186675.1. NM_001199746.1. [P13378-2]
NP_062458.1. NM_019558.3. [P13378-1]
UniGeneiHs.301963.
Hs.700870.

Genome annotation databases

EnsembliENST00000313173; ENSP00000315949; ENSG00000175879. [P13378-1]
ENST00000450510; ENSP00000409026; ENSG00000175879. [P13378-2]
ENST00000544999; ENSP00000437431; ENSG00000175879. [P13378-2]
GeneIDi3234.
KEGGihsa:3234.
UCSCiuc002uko.3. human. [P13378-1]
uc002ukp.3. human. [P13378-2]

Polymorphism databases

DMDMi13124737.

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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 .
CCDSi CCDS2268.1. [P13378-1 ]
CCDS56148.1. [P13378-2 ]
PIRi B32830.
RefSeqi NP_001186675.1. NM_001199746.1. [P13378-2 ]
NP_062458.1. NM_019558.3. [P13378-1 ]
UniGenei Hs.301963.
Hs.700870.

3D structure databases

ProteinModelPortali P13378.
SMRi P13378. Positions 201-256.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 109474. 6 interactions.
IntActi P13378. 5 interactions.
MINTi MINT-7032137.
STRINGi 9606.ENSP00000315949.

PTM databases

PhosphoSitei P13378.

Polymorphism databases

DMDMi 13124737.

Proteomic databases

PaxDbi P13378.
PRIDEi P13378.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000313173 ; ENSP00000315949 ; ENSG00000175879 . [P13378-1 ]
ENST00000450510 ; ENSP00000409026 ; ENSG00000175879 . [P13378-2 ]
ENST00000544999 ; ENSP00000437431 ; ENSG00000175879 . [P13378-2 ]
GeneIDi 3234.
KEGGi hsa:3234.
UCSCi uc002uko.3. human. [P13378-1 ]
uc002ukp.3. human. [P13378-2 ]

Organism-specific databases

CTDi 3234.
GeneCardsi GC02P176994.
HGNCi HGNC:5139. HOXD8.
MIMi 142985. gene.
neXtProti NX_P13378.
PharmGKBi PA29413.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG314669.
HOGENOMi HOG000231181.
HOVERGENi HBG016849.
InParanoidi P13378.
KOi K09308.
OMAi GQEYFHP.
OrthoDBi EOG780RP4.
PhylomeDBi P13378.
TreeFami TF316310.

Miscellaneous databases

GeneWikii HOXD8.
GenomeRNAii 3234.
NextBioi 12869.
PROi P13378.
SOURCEi Search...

Gene expression databases

ArrayExpressi P13378.
Bgeei P13378.
CleanExi HS_HOXD8.
Genevestigatori P13378.

Family and domain databases

Gene3Di 1.10.10.60. 1 hit.
InterProi IPR001827. Homeobox_Antennapedia_CS.
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 PS00032. ANTENNAPEDIA. 1 hit.
PS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. 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.
    , 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.

Entry informationi

Entry nameiHXD8_HUMAN
AccessioniPrimary (citable) accession number: P13378
Secondary accession number(s): F8WBG7, Q5BL00, Q8IXZ1
Entry historyi
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 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. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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