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Protein

Homeobox protein DLX-4

Gene

DLX4

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

Functioni

May play a role in determining the production of hemoglobin S. May act as a repressor. During embryonic development, plays a role in palatogenesis.2 Publications

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
DNA bindingi117 – 176HomeoboxPROSITE-ProRule annotationAdd BLAST60

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionDevelopmental protein, 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
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

EuPathDBiHostDB:ENSG00000108813.10
HGNCiHGNC:2917 DLX4
MIMi601911 gene
neXtProtiNX_Q92988

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Non-syndromic orofacial cleft 15 (OFC15)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA birth defect consisting of cleft lips with or without cleft palate. Cleft lips are associated with cleft palate in two-third of cases. A cleft lip can occur on one or both sides and range in severity from a simple notch in the upper lip to a complete opening in the lip extending into the floor of the nostril and involving the upper gum. OFC15 inheritance is autosomal dominant.
See also OMIM:616788

Organism-specific databases

DisGeNETi1748
MalaCardsiDLX4
MIMi616788 phenotype
OpenTargetsiENSG00000108813
PharmGKBiPA27372

Polymorphism and mutation databases

BioMutaiDLX4
DMDMi85700416

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000490281 – 240Homeobox protein DLX-4Add BLAST240

Proteomic databases

PaxDbiQ92988
PeptideAtlasiQ92988
PRIDEiQ92988
ProteomicsDBi75647
75648 [Q92988-2]
75649 [Q92988-3]

PTM databases

iPTMnetiQ92988
PhosphoSitePlusiQ92988

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiENSG00000108813 Expressed in 100 organ(s), highest expression level in tendon
CleanExiHS_DLX4
GenevisibleiQ92988 HS

Organism-specific databases

HPAiHPA059933

Interactioni

Binary interactionsi

Protein-protein interaction databases

BioGridi108092, 4 interactors
IntActiQ92988, 14 interactors
MINTiQ92988
STRINGi9606.ENSP00000240306

Structurei

3D structure databases

ProteinModelPortaliQ92988
SMRiQ92988
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the distal-less homeobox family.Curated

Keywords - Domaini

Homeobox

Phylogenomic databases

eggNOGiKOG0850 Eukaryota
ENOG410ZHZR LUCA
GeneTreeiENSGT00920000148979
HOVERGENiHBG005493
InParanoidiQ92988
KOiK09314
OMAiYSGPYGH
OrthoDBiEOG091G0L8C
PhylomeDBiQ92988
TreeFamiTF315720

Family and domain databases

CDDicd00086 homeodomain, 1 hit
InterProiView protein in InterPro
IPR009057 Homeobox-like_sf
IPR017970 Homeobox_CS
IPR001356 Homeobox_dom
IPR020479 Homeobox_metazoa
IPR000047 HTH_motif
PfamiView protein in Pfam
PF00046 Homeobox, 1 hit
PRINTSiPR00024 HOMEOBOX
PR00031 HTHREPRESSR
SMARTiView protein in SMART
SM00389 HOX, 1 hit
SUPFAMiSSF46689 SSF46689, 1 hit
PROSITEiView protein in PROSITE
PS00027 HOMEOBOX_1, 1 hit
PS50071 HOMEOBOX_2, 1 hit

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket
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)DescriptionActionsGraphical viewLength
Sequence conflicti1 – 94MTSLP…QELEA → GGSLSLPPEPLCARCPTKEG AAPRRPGFWGSLETQAATVW RGRHGHFSCRVRLSRGAARY SRRGQGKPGVTISAARLVFK VLSAGPLTHPAGRSRRLPRG HRLKPLSIALSLCLQCPSSV ISRPRLSPGPSLSAPPYPKL APPPVAELRPPTAGAAVPWL WPSARFLPRVTGPIRVGAPL GAELRLVSPGAVNVGVETLH AE (PubMed:9073066).CuratedAdd BLAST94
Sequence conflicti113P → A in AAC50942 (PubMed:8975708).Curated1
Sequence conflicti203S → Y in AAC50942 (PubMed:8975708).Curated1
Sequence conflicti224A → P in AAC50942 (PubMed:8975708).Curated1
Sequence conflicti235Missing in AAC50942 (PubMed:8975708).Curated1
Isoform 2 (identifier: Q92988-2)
Sequence conflicti8P → H in AAC50942 (PubMed:8975708).Curated1
Sequence conflicti15Y → N in AAC50942 (PubMed:8975708).Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0022361 – 94MTSLP…QELEA → MKLSVLPPRSLLAPYTVLCC PP in isoform 2 and isoform 3. 2 PublicationsAdd BLAST94
Alternative sequenceiVSP_017043162 – 240KIWFQ…SPQMM → GPVSSFPISHLPWFSGNSSP SPSCE in isoform 3. 1 PublicationAdd BLAST79

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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]
XP_016879780.1, XM_017024291.1 [Q92988-2]
UniGeneiHs.591167

Genome annotation databases

EnsembliENST00000240306; ENSP00000240306; ENSG00000108813 [Q92988-1]
ENST00000411890; ENSP00000410622; ENSG00000108813 [Q92988-2]
ENST00000611342; ENSP00000480366; ENSG00000108813 [Q92988-3]
GeneIDi1748
KEGGihsa:1748
UCSCiuc002ipv.4 human [Q92988-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Cross-referencesi

Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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]
XP_016879780.1, XM_017024291.1 [Q92988-2]
UniGeneiHs.591167

3D structure databases

ProteinModelPortaliQ92988
SMRiQ92988
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108092, 4 interactors
IntActiQ92988, 14 interactors
MINTiQ92988
STRINGi9606.ENSP00000240306

PTM databases

iPTMnetiQ92988
PhosphoSitePlusiQ92988

Polymorphism and mutation databases

BioMutaiDLX4
DMDMi85700416

Proteomic databases

PaxDbiQ92988
PeptideAtlasiQ92988
PRIDEiQ92988
ProteomicsDBi75647
75648 [Q92988-2]
75649 [Q92988-3]

Protocols and materials databases

DNASUi1748
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000240306; ENSP00000240306; ENSG00000108813 [Q92988-1]
ENST00000411890; ENSP00000410622; ENSG00000108813 [Q92988-2]
ENST00000611342; ENSP00000480366; ENSG00000108813 [Q92988-3]
GeneIDi1748
KEGGihsa:1748
UCSCiuc002ipv.4 human [Q92988-1]

Organism-specific databases

CTDi1748
DisGeNETi1748
EuPathDBiHostDB:ENSG00000108813.10
GeneCardsiDLX4
HGNCiHGNC:2917 DLX4
HPAiHPA059933
MalaCardsiDLX4
MIMi601911 gene
616788 phenotype
neXtProtiNX_Q92988
OpenTargetsiENSG00000108813
PharmGKBiPA27372
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0850 Eukaryota
ENOG410ZHZR LUCA
GeneTreeiENSGT00920000148979
HOVERGENiHBG005493
InParanoidiQ92988
KOiK09314
OMAiYSGPYGH
OrthoDBiEOG091G0L8C
PhylomeDBiQ92988
TreeFamiTF315720

Miscellaneous databases

GeneWikiiDLX4
GenomeRNAii1748
PROiPR:Q92988
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000108813 Expressed in 100 organ(s), highest expression level in tendon
CleanExiHS_DLX4
GenevisibleiQ92988 HS

Family and domain databases

CDDicd00086 homeodomain, 1 hit
InterProiView protein in InterPro
IPR009057 Homeobox-like_sf
IPR017970 Homeobox_CS
IPR001356 Homeobox_dom
IPR020479 Homeobox_metazoa
IPR000047 HTH_motif
PfamiView protein in Pfam
PF00046 Homeobox, 1 hit
PRINTSiPR00024 HOMEOBOX
PR00031 HTHREPRESSR
SMARTiView protein in SMART
SM00389 HOX, 1 hit
SUPFAMiSSF46689 SSF46689, 1 hit
PROSITEiView protein in PROSITE
PS00027 HOMEOBOX_1, 1 hit
PS50071 HOMEOBOX_2, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiDLX4_HUMAN
AccessioniPrimary (citable) accession number: Q92988
Secondary accession number(s): D3DTX2
, D3DTX3, O60480, Q13265, Q6PJK0, Q9HBE0
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: January 24, 2006
Last modified: September 12, 2018
This is version 162 of the entry and version 4 of the sequence. See 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
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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