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Protein

Homeobox protein Hox-D8

Gene

HOXD8

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: 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 – 25660HomeoboxPROSITE-ProRule annotationAdd
BLAST

GO - Molecular functioni

GO - Biological processi

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 Componenti: Chromosome 2

Organism-specific databases

HGNCiHGNC:5139. HOXD8.

Subcellular locationi

GO - Cellular componenti

  • nucleus Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA29413.

Polymorphism and mutation databases

BioMutaiHOXD8.
DMDMi13124737.

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

BgeeiP13378.
CleanExiHS_HOXD8.
ExpressionAtlasiP13378. baseline and differential.
GenevisibleiP13378. HS.

Interactioni

Protein-protein interaction databases

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

Structurei

3D structure databases

ProteinModelPortaliP13378.
SMRiP13378. Positions 201-256.
ModBaseiSearch...
MobiDBiSearch...

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.Curated
Contains 1 homeobox DNA-binding domain.PROSITE-ProRule annotation

Keywords - Domaini

Homeobox

Phylogenomic databases

eggNOGiNOG314669.
GeneTreeiENSGT00760000118945.
HOGENOMiHOG000231181.
HOVERGENiHBG016849.
InParanoidiP13378.
KOiK09308.
OMAiGPGQDYF.
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. AlignAdd to basket

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

        10         20         30         40         50
MSSYFVNPLY SKYKAAAAAA AAAGEAINPT YYDCHFAPEV GGRHAAAAAA
60 70 80 90 100
LQLYGNSAAG FPHAPPQAHA HPHPSPPPSG TGCGGREGRG QEYFHPGGGS
110 120 130 140 150
PAAAYQAAPP PPPHPPPPPP PPPCGGIACH GEPAKFYGYD NLQRQPIFTT
160 170 180 190 200
QQEAELVQYP DCKSSSGNIG EDPDHLNQSS SPSQMFPWMR PQAAPGRRRG
210 220 230 240 250
RQTYSRFQTL ELEKEFLFNP YLTRKRRIEV SHALALTERQ VKIWFQNRRM
260 270 280 290
KWKKENNKDK FPVSRQEVKD GETKKEAQEL EEDRAEGLTN
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

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti39 – 391E → G in AAH90853 (PubMed:15489334).Curated
Sequence conflicti287 – 2871G → A in CAA33529 (PubMed:2568311).Curated

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 184184Missing in isoform 3. 1 PublicationVSP_045862Add
BLAST
Alternative sequencei193 – 1931Missing in isoform 2. 1 PublicationVSP_042856
Alternative sequencei252 – 29039Missing in isoform 3. 1 PublicationVSP_045863Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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.
ENST00000450510; ENSP00000409026; ENSG00000175879. [P13378-2]
GeneIDi3234.
KEGGihsa:3234.
UCSCiuc002ukn.3. human.
uc002uko.3. human. [P13378-1]
uc002ukp.3. human. [P13378-2]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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.

3D structure databases

ProteinModelPortaliP13378.
SMRiP13378. Positions 201-256.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

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

PTM databases

PhosphoSiteiP13378.

Polymorphism and mutation databases

BioMutaiHOXD8.
DMDMi13124737.

Proteomic databases

PaxDbiP13378.
PRIDEiP13378.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000313173; ENSP00000315949; ENSG00000175879.
ENST00000450510; ENSP00000409026; ENSG00000175879. [P13378-2]
GeneIDi3234.
KEGGihsa:3234.
UCSCiuc002ukn.3. human.
uc002uko.3. human. [P13378-1]
uc002ukp.3. human. [P13378-2]

Organism-specific databases

CTDi3234.
GeneCardsiGC02P176994.
HGNCiHGNC:5139. HOXD8.
MIMi142985. gene.
neXtProtiNX_P13378.
PharmGKBiPA29413.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG314669.
GeneTreeiENSGT00760000118945.
HOGENOMiHOG000231181.
HOVERGENiHBG016849.
InParanoidiP13378.
KOiK09308.
OMAiGPGQDYF.
OrthoDBiEOG780RP4.
PhylomeDBiP13378.
TreeFamiTF316310.

Miscellaneous databases

GeneWikiiHOXD8.
GenomeRNAii3234.
NextBioi12869.
PROiP13378.
SOURCEiSearch...

Gene expression databases

BgeeiP13378.
CleanExiHS_HOXD8.
ExpressionAtlasiP13378. baseline and differential.
GenevisibleiP13378. HS.

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]
ProtoNetiSearch...

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 22, 2015
This is version 150 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.