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Q9GZZ0 (HXD1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 110. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Homeobox protein Hox-D1
Alternative name(s):
Homeobox protein Hox-GG
Gene names
Name:HOXD1
Synonyms:HOX4, HOX4G
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length328 AA.
Sequence statusComplete.
Protein existenceEvidence at protein 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. Acts on the anterior body structures.

Subcellular location

Nucleus.

Sequence similarities

Belongs to the Antp homeobox family. Labial subfamily.

Contains 1 homeobox DNA-binding domain.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 328328Homeobox protein Hox-D1
PRO_0000200201

Regions

DNA binding229 – 28860Homeobox
Motif204 – 2096Antp-type hexapeptide

Natural variations

Natural variant2961A → T.
Corresponds to variant rs6710142 [ dbSNP | Ensembl ].
VAR_034003

Sequences

Sequence LengthMass (Da)Tools
Q9GZZ0 [UniParc].

Last modified March 1, 2001. Version 1.
Checksum: 1B9EBBF4E2DA0301

FASTA32834,093
        10         20         30         40         50         60 
MSSYLEYVSC SSSGGVGGDV LSLAPKFCRS DARPVALQPA FPLGNGDGAF VSCLPLAAAR 

        70         80         90        100        110        120 
PSPSPPAAPA RPSVPPPAAP QYAQCTLEGA YEPGAAPAAA AGGADYGFLG SGPAYDFPGV 

       130        140        150        160        170        180 
LGRAADDGGS HVHYATSAVF SGGGSFLLSG QVDYAAFGEP GPFPACLKAS ADGHPGAFQT 

       190        200        210        220        230        240 
ASPAPGTYPK SVSPASGLPA AFSTFEWMKV KRNASKKGKL AEYGAASPSS AIRTNFSTKQ 

       250        260        270        280        290        300 
LTELEKEFHF NKYLTRARRI EIANCLHLND TQVKIWFQNR RMKQKKRERE GLLATAIPVA 

       310        320 
PLQLPLSGTT PTKFIKNPGS PSQSQEPS 

« Hide

References

« Hide 'large scale' references
[1]"Isolation and characterization of the human homeobox gene HOX D1."
Appukuttan B., Sood R., Ott S., Makalowska I., Patel R.J., Wang X., Robbins C.M., Brownstein M.J., Stout J.T.
Mol. Biol. Rep. 27:195-201(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[2]"Cloning and expression analysis of human HOXD1; a maternally-derived homeobox transcription factor abundant in unfertilized human oocytes."
Adjaye J.
Submitted (MAR-2000) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA].
Tissue: Oocyte.
[3]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Caudate nucleus.
[4]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. expand/collapse author list , 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 (SEP-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF202118 Genomic DNA. Translation: AAG29939.1.
AF241528 mRNA. Translation: AAG44444.1.
AK314120 mRNA. Translation: BAG36811.1.
CH471058 Genomic DNA. Translation: EAX11080.1.
CCDSCCDS2271.1.
RefSeqNP_078777.1. NM_024501.2.
UniGeneHs.83465.

3D structure databases

ProteinModelPortalQ9GZZ0.
SMRQ9GZZ0. Positions 204-290.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid109471. 1 interaction.
STRING9606.ENSP00000328598.

Polymorphism databases

DMDM17378648.

Proteomic databases

PaxDbQ9GZZ0.
PeptideAtlasQ9GZZ0.
PRIDEQ9GZZ0.

Protocols and materials databases

DNASU3231.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000331462; ENSP00000328598; ENSG00000128645.
GeneID3231.
KEGGhsa:3231.
UCSCuc002ukv.5. human.

Organism-specific databases

CTD3231.
GeneCardsGC02P177053.
HGNCHGNC:5132. HOXD1.
MIM142987. gene.
neXtProtNX_Q9GZZ0.
PharmGKBPA29406.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG314488.
HOGENOMHOG000247020.
HOVERGENHBG006089.
InParanoidQ9GZZ0.
KOK09301.
OMAYLEYVSC.
OrthoDBEOG7PK91P.
PhylomeDBQ9GZZ0.
TreeFamTF317730.

Gene expression databases

BgeeQ9GZZ0.
CleanExHS_HOXD1.
GenevestigatorQ9GZZ0.

Family and domain databases

Gene3D1.10.10.60. 1 hit.
InterProIPR017970. 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.
PROSITEPS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiHOXD1.
GenomeRNAi3231.
NextBio12857.
PROQ9GZZ0.
SOURCESearch...

Entry information

Entry nameHXD1_HUMAN
AccessionPrimary (citable) accession number: Q9GZZ0
Secondary accession number(s): B2RAB4
Entry history
Integrated into UniProtKB/Swiss-Prot: September 26, 2001
Last sequence update: March 1, 2001
Last modified: July 9, 2014
This is version 110 of the entry and version 1 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 polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

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