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Q92988

- DLX4_HUMAN

UniProt

Q92988 - DLX4_HUMAN

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Protein

Homeobox protein DLX-4

Gene

DLX4

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli

Functioni

May play a role in determining the production of hemoglobin S. May act as a repressor.1 Publication

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
DNA bindingi117 – 17660HomeoboxPROSITE-ProRule annotationAdd
BLAST

GO - Molecular functioni

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

GO - Biological processi

  1. multicellular organismal development Source: UniProtKB-KW
  2. regulation of transcription, DNA-templated Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Ligandi

DNA-binding

Names & Taxonomyi

Protein namesi
Recommended name:
Homeobox protein DLX-4
Alternative name(s):
Beta protein 1
Homeobox protein DLX-7
Homeobox protein DLX-8
Gene namesi
Name:DLX4
Synonyms:BP1, DLX7, DLX8, DLX9
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 17

Organism-specific databases

HGNCiHGNC:2917. DLX4.

Subcellular locationi

Nucleus PROSITE-ProRule annotation

GO - Cellular componenti

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

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA27372.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 240240Homeobox protein DLX-4PRO_0000049028Add
BLAST

Proteomic databases

PaxDbiQ92988.
PRIDEiQ92988.

Expressioni

Tissue specificityi

Expressed in leukemia cells and placenta. Also expressed in kidney and fetal liver.2 Publications

Gene expression databases

BgeeiQ92988.
CleanExiHS_DLX4.
GenevestigatoriQ92988.

Organism-specific databases

HPAiHPA059933.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
NCK1P163333EBI-1752755,EBI-389883
SMAD4Q134855EBI-1752755,EBI-347263
SP1P080474EBI-1752755,EBI-298336

Protein-protein interaction databases

BioGridi108092. 2 interactions.
IntActiQ92988. 13 interactions.
MINTiMINT-6489135.
STRINGi9606.ENSP00000240306.

Structurei

3D structure databases

ProteinModelPortaliQ92988.
SMRiQ92988. Positions 118-174.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the distal-less homeobox family.Curated
Contains 1 homeobox DNA-binding domain.PROSITE-ProRule annotation

Keywords - Domaini

Homeobox

Phylogenomic databases

eggNOGiNOG240888.
GeneTreeiENSGT00760000118844.
HOVERGENiHBG005493.
InParanoidiQ92988.
KOiK09314.
OMAiYSGPYGH.
OrthoDBiEOG7ZKSC1.
PhylomeDBiQ92988.
TreeFamiTF315720.

Family and domain databases

Gene3Di1.10.10.60. 1 hit.
InterProiIPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR020479. Homeobox_metazoa.
IPR009057. Homeodomain-like.
IPR000047. HTH_motif.
[Graphical view]
PfamiPF00046. Homeobox. 1 hit.
[Graphical view]
PRINTSiPR00024. HOMEOBOX.
PR00031. HTHREPRESSR.
SMARTiSM00389. HOX. 1 hit.
[Graphical view]
SUPFAMiSSF46689. SSF46689. 1 hit.
PROSITEiPS00027. 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

Note: Additional isoforms seem to exist. PubMed:9073066 (AAC51171) sequence may be an additional isoform.

Isoform 1 (identifier: Q92988-1) [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
MTSLPCPLPG RDASKAVFPD LAPVPSVAAA YPLGLSPTTA ASPNLSYSRP
60 70 80 90 100
YGHLLSYPYT EPANPGDSYL SCQQPAALSQ PLCGPAEHPQ ELEADSEKPR
110 120 130 140 150
LSPEPSERRP QAPAKKLRKP RTIYSSLQLQ HLNQRFQHTQ YLALPERAQL
160 170 180 190 200
AAQLGLTQTQ VKIWFQNKRS KYKKLLKQNS GGQEGDFPGR TFSVSPCSPP
210 220 230 240
LPSLWDLPKA GTLPTSGYGN SFGAWYQHHS SDVLASPQMM
Length:240
Mass (Da):26,263
Last modified:January 24, 2006 - v4
Checksum:i18EE52CF20C126EB
GO
Isoform 2 (identifier: Q92988-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-94: MTSLPCPLPG...PAEHPQELEA → MKLSVLPPRSLLAPYTVLCCPP

Show »
Length:168
Mass (Da):18,882
Checksum:i4FFAE12F68694521
GO
Isoform 3 (identifier: Q92988-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-94: MTSLPCPLPG...PAEHPQELEA → MKLSVLPPRSLLAPYTVLCCPP
     162-240: KIWFQNKRSK...SDVLASPQMM → GPVSSFPISHLPWFSGNSSPSPSCE

Show »
Length:114
Mass (Da):12,713
Checksum:iCF4057EAB2FE0B0B
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti1 – 9494MTSLP…QELEA → GGSLSLPPEPLCARCPTKEG AAPRRPGFWGSLETQAATVW RGRHGHFSCRVRLSRGAARY SRRGQGKPGVTISAARLVFK VLSAGPLTHPAGRSRRLPRG HRLKPLSIALSLCLQCPSSV ISRPRLSPGPSLSAPPYPKL APPPVAELRPPTAGAAVPWL WPSARFLPRVTGPIRVGAPL GAELRLVSPGAVNVGVETLH AE(PubMed:9073066)CuratedAdd
BLAST
Sequence conflicti113 – 1131P → A in AAC50942. (PubMed:8975708)Curated
Sequence conflicti203 – 2031S → Y in AAC50942. (PubMed:8975708)Curated
Sequence conflicti224 – 2241A → P in AAC50942. (PubMed:8975708)Curated
Sequence conflicti235 – 2351Missing in AAC50942. (PubMed:8975708)Curated
Isoform 2 (identifier: Q92988-2)
Sequence conflicti8 – 81P → H in AAC50942. (PubMed:8975708)Curated
Sequence conflicti15 – 151Y → N in AAC50942. (PubMed:8975708)Curated

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 9494MTSLP…QELEA → MKLSVLPPRSLLAPYTVLCC PP in isoform 2 and isoform 3. 2 PublicationsVSP_002236Add
BLAST
Alternative sequencei162 – 24079KIWFQ…SPQMM → GPVSSFPISHLPWFSGNSSP SPSCE in isoform 3. 1 PublicationVSP_017043Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
U73328 mRNA. Translation: AAC50942.1.
AF028235 Genomic DNA. Translation: AAC14398.1.
AF254115 mRNA. Translation: AAG31975.1.
AF452638 Genomic DNA. Translation: AAL99503.1.
BT006978 mRNA. Translation: AAP35624.1.
CH471109 Genomic DNA. Translation: EAW94651.1.
CH471109 Genomic DNA. Translation: EAW94653.1.
CH471109 Genomic DNA. Translation: EAW94654.1.
CH471109 Genomic DNA. Translation: EAW94655.1.
BC005812 mRNA. Translation: AAH05812.1.
BC014419 mRNA. Translation: AAH14419.1.
BC016145 mRNA. Translation: AAH16145.1.
U31762 mRNA. Translation: AAC51171.1.
CCDSiCCDS11555.1. [Q92988-1]
CCDS45728.1. [Q92988-2]
PIRiG01958.
RefSeqiNP_001925.2. NM_001934.3. [Q92988-2]
NP_612138.1. NM_138281.2. [Q92988-1]
UniGeneiHs.591167.

Genome annotation databases

EnsembliENST00000240306; ENSP00000240306; ENSG00000108813. [Q92988-1]
ENST00000411890; ENSP00000410622; ENSG00000108813. [Q92988-2]
ENST00000611342; ENSP00000480366; ENSG00000108813. [Q92988-3]
GeneIDi1748.
KEGGihsa:1748.
UCSCiuc002ipv.3. human. [Q92988-1]
uc002ipw.3. human. [Q92988-2]
uc021tzu.1. human. [Q92988-3]

Polymorphism databases

DMDMi85700416.

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
U73328 mRNA. Translation: AAC50942.1 .
AF028235 Genomic DNA. Translation: AAC14398.1 .
AF254115 mRNA. Translation: AAG31975.1 .
AF452638 Genomic DNA. Translation: AAL99503.1 .
BT006978 mRNA. Translation: AAP35624.1 .
CH471109 Genomic DNA. Translation: EAW94651.1 .
CH471109 Genomic DNA. Translation: EAW94653.1 .
CH471109 Genomic DNA. Translation: EAW94654.1 .
CH471109 Genomic DNA. Translation: EAW94655.1 .
BC005812 mRNA. Translation: AAH05812.1 .
BC014419 mRNA. Translation: AAH14419.1 .
BC016145 mRNA. Translation: AAH16145.1 .
U31762 mRNA. Translation: AAC51171.1 .
CCDSi CCDS11555.1. [Q92988-1 ]
CCDS45728.1. [Q92988-2 ]
PIRi G01958.
RefSeqi NP_001925.2. NM_001934.3. [Q92988-2 ]
NP_612138.1. NM_138281.2. [Q92988-1 ]
UniGenei Hs.591167.

3D structure databases

ProteinModelPortali Q92988.
SMRi Q92988. Positions 118-174.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 108092. 2 interactions.
IntActi Q92988. 13 interactions.
MINTi MINT-6489135.
STRINGi 9606.ENSP00000240306.

Polymorphism databases

DMDMi 85700416.

Proteomic databases

PaxDbi Q92988.
PRIDEi Q92988.

Protocols and materials databases

DNASUi 1748.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000240306 ; ENSP00000240306 ; ENSG00000108813 . [Q92988-1 ]
ENST00000411890 ; ENSP00000410622 ; ENSG00000108813 . [Q92988-2 ]
ENST00000611342 ; ENSP00000480366 ; ENSG00000108813 . [Q92988-3 ]
GeneIDi 1748.
KEGGi hsa:1748.
UCSCi uc002ipv.3. human. [Q92988-1 ]
uc002ipw.3. human. [Q92988-2 ]
uc021tzu.1. human. [Q92988-3 ]

Organism-specific databases

CTDi 1748.
GeneCardsi GC17P048046.
HGNCi HGNC:2917. DLX4.
HPAi HPA059933.
MIMi 601911. gene.
neXtProti NX_Q92988.
PharmGKBi PA27372.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG240888.
GeneTreei ENSGT00760000118844.
HOVERGENi HBG005493.
InParanoidi Q92988.
KOi K09314.
OMAi YSGPYGH.
OrthoDBi EOG7ZKSC1.
PhylomeDBi Q92988.
TreeFami TF315720.

Miscellaneous databases

GeneWikii DLX4.
GenomeRNAii 1748.
NextBioi 7091.
PROi Q92988.
SOURCEi Search...

Gene expression databases

Bgeei Q92988.
CleanExi HS_DLX4.
Genevestigatori Q92988.

Family and domain databases

Gene3Di 1.10.10.60. 1 hit.
InterProi IPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR020479. Homeobox_metazoa.
IPR009057. Homeodomain-like.
IPR000047. HTH_motif.
[Graphical view ]
Pfami PF00046. Homeobox. 1 hit.
[Graphical view ]
PRINTSi PR00024. HOMEOBOX.
PR00031. HTHREPRESSR.
SMARTi SM00389. HOX. 1 hit.
[Graphical view ]
SUPFAMi SSF46689. SSF46689. 1 hit.
PROSITEi PS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
    Tissue: Leukemia.
  2. "Identification of a mutation in DLX3 associated with tricho-dento-osseous (TDO) syndrome."
    Price J.A., Bowden D.W., Wright J.T., Pettenati M.J., Hart T.C.
    Hum. Mol. Genet. 7:563-569(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  3. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY.
  4. "BP1, a homeodomain-containing isoform of DLX4, represses the beta-globin gene."
    Chase M.B., Fu S., Haga S.B., Davenport G., Stevenson H., Do K., Morgan D., Mah A.L., Berg P.E.
    Mol. Cell. Biol. 22:2505-2514(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY, FUNCTION.
  5. Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    Tissue: Foreskin.
  6. "Cloning of human full-length CDSs in BD Creator(TM) system donor vector."
    Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A.
    Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
  7. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  8. "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] (ISOFORMS 1 AND 3).
    Tissue: Placenta and Uterus.
  9. "Isolation and identification of homeobox genes from the human placenta including a novel member of the Distal-less family, DLX4."
    Quinn L.M., Johnson B.V., Nicholl J., Sutherland G.R., Kalionis B.
    Gene 187:55-61(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-177.
    Tissue: Placenta.

Entry informationi

Entry nameiDLX4_HUMAN
AccessioniPrimary (citable) accession number: Q92988
Secondary accession number(s): D3DTX2
, D3DTX3, O60480, Q13265, Q6PJK0, Q9HBE0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: January 24, 2006
Last modified: October 29, 2014
This is version 129 of the entry and version 4 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. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3