UniProtKB - Q8TE12 (LMX1A_HUMAN)
Protein
LIM homeobox transcription factor 1-alpha
Gene
LMX1A
Organism
Homo sapiens (Human)
Status
Functioni
Acts as a transcriptional activator by binding to an A/T-rich sequence, the FLAT element, in the insulin gene promoter. Required for development of the roof plate and, in turn, for specification of dorsal cell fates in the CNS and developing vertebrae (By similarity).By similarity
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
DNA bindingi | 195 – 254 | HomeoboxPROSITE-ProRule annotationAdd BLAST | 60 |
GO - Molecular functioni
- DNA-binding transcription activator activity, RNA polymerase II-specific Source: Ensembl
- DNA-binding transcription factor activity, RNA polymerase II-specific Source: NTNU_SB
- metal ion binding Source: UniProtKB-KW
- RNA polymerase II transcription regulatory region sequence-specific DNA binding Source: ParkinsonsUK-UCL
- sequence-specific double-stranded DNA binding Source: ARUK-UCL
GO - Biological processi
- axon guidance Source: Ensembl
- cerebellum development Source: Ensembl
- dentate gyrus development Source: Ensembl
- dopaminergic neuron differentiation Source: ParkinsonsUK-UCL
- locomotory behavior Source: Ensembl
- memory Source: Ensembl
- midbrain dopaminergic neuron differentiation Source: ParkinsonsUK-UCL
- negative regulation of neuron differentiation Source: Ensembl
- neuron differentiation Source: GO_Central
- olfactory behavior Source: Ensembl
- positive regulation of transcription by RNA polymerase II Source: ParkinsonsUK-UCL
- regulation of cell growth Source: Ensembl
- regulation of transcription by RNA polymerase II Source: GO_Central
- synapse organization Source: Ensembl
Keywordsi
Molecular function | Activator, Developmental protein, DNA-binding |
Biological process | Transcription, Transcription regulation |
Ligand | Metal-binding, Zinc |
Enzyme and pathway databases
PathwayCommonsi | Q8TE12 |
SIGNORi | Q8TE12 |
Names & Taxonomyi
Protein namesi | Recommended name: LIM homeobox transcription factor 1-alphaAlternative name(s): LIM/homeobox protein 1.1 Short name: LMX-1.1 LIM/homeobox protein LMX1A |
Gene namesi | Name:LMX1A |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000162761.14 |
HGNCi | HGNC:6653, LMX1A |
MIMi | 600298, gene |
neXtProti | NX_Q8TE12 |
Subcellular locationi
Nucleus
- Nucleus PROSITE-ProRule annotation
Nucleus
- nuclear chromatin Source: NTNU_SB
- nucleus Source: GO_Central
Keywords - Cellular componenti
NucleusPathology & Biotechi
Involvement in diseasei
Deafness, autosomal dominant, 7 (DFNA7)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNA7 is a progressive form with highly variable age at onset and severity, even within families. The age at onset ranges from congenital to mid-adulthood.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_083732 | 97 | C → S in DFNA7; unknown pathological significance. 1 Publication | 1 | |
Natural variantiVAR_083734 | 241 | V → L in DFNA7. 1 Publication | 1 |
Keywords - Diseasei
Deafness, Disease mutation, Non-syndromic deafnessOrganism-specific databases
DisGeNETi | 4009 |
MalaCardsi | LMX1A |
MIMi | 601412, phenotype |
OpenTargetsi | ENSG00000162761 |
PharmGKBi | PA30416 |
Miscellaneous databases
Pharosi | Q8TE12, Tbio |
Polymorphism and mutation databases
BioMutai | LMX1A |
DMDMi | 27923801 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000075825 | 1 – 382 | LIM homeobox transcription factor 1-alphaAdd BLAST | 382 |
Proteomic databases
MassIVEi | Q8TE12 |
PaxDbi | Q8TE12 |
PeptideAtlasi | Q8TE12 |
PRIDEi | Q8TE12 |
ProteomicsDBi | 74389 [Q8TE12-1] 74390 [Q8TE12-2] |
PTM databases
iPTMneti | Q8TE12 |
PhosphoSitePlusi | Q8TE12 |
Expressioni
Tissue specificityi
Isoform 1 is expressed in many tissues. Not found in heart, liver, spleen and testis. Relatively highly expressed in fetal brain. Isoform LMX1A-4AB is expressed in testis.1 Publication
Gene expression databases
Bgeei | ENSG00000162761, Expressed in pituitary gland and 62 other tissues |
Genevisiblei | Q8TE12, HS |
Organism-specific databases
HPAi | ENSG00000162761, Tissue enhanced (brain, pituitary gland) |
Interactioni
Binary interactionsi
Q8TE12
With | #Exp. | IntAct |
---|---|---|
GRB2 [P62993] | 3 | EBI-10692065,EBI-401755 |
Protein-protein interaction databases
BioGRIDi | 110194, 5 interactors |
IntActi | Q8TE12, 1 interactor |
STRINGi | 9606.ENSP00000340226 |
Miscellaneous databases
RNActi | Q8TE12, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 33 – 92 | LIM zinc-binding 1PROSITE-ProRule annotationAdd BLAST | 60 | |
Domaini | 92 – 154 | LIM zinc-binding 2PROSITE-ProRule annotationAdd BLAST | 63 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 240 – 274 | Gln-richAdd BLAST | 35 | |
Compositional biasi | 257 – 265 | Poly-Gln | 9 |
Keywords - Domaini
Homeobox, LIM domain, RepeatPhylogenomic databases
eggNOGi | KOG0490, Eukaryota |
GeneTreei | ENSGT00940000157774 |
HOGENOMi | CLU_027802_0_0_1 |
InParanoidi | Q8TE12 |
OMAi | STGMEGI |
OrthoDBi | 737134at2759 |
PhylomeDBi | Q8TE12 |
TreeFami | TF315442 |
Family and domain databases
CDDi | cd00086, homeodomain, 1 hit cd09370, LIM1_Lmx1a, 1 hit |
InterProi | View protein in InterPro IPR009057, Homeobox-like_sf IPR017970, Homeobox_CS IPR001356, Homeobox_dom IPR042688, Lmx1a_LIM1 IPR001781, Znf_LIM |
Pfami | View protein in Pfam PF00046, Homeodomain, 1 hit PF00412, LIM, 2 hits |
SMARTi | View protein in SMART SM00389, HOX, 1 hit SM00132, LIM, 2 hits |
SUPFAMi | SSF46689, SSF46689, 1 hit |
PROSITEi | View protein in PROSITE PS00027, HOMEOBOX_1, 1 hit PS50071, HOMEOBOX_2, 1 hit PS00478, LIM_DOMAIN_1, 2 hits PS50023, LIM_DOMAIN_2, 2 hits |
s (2)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketIsoform 1 (identifier: Q8TE12-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MLDGLKMEEN FQSAIDTSAS FSSLLGRAVS PKSVCEGCQR VILDRFLLRL
60 70 80 90 100
NDSFWHEQCV QCASCKEPLE TTCFYRDKKL YCKYDYEKLF AVKCGGCFEA
110 120 130 140 150
IAPNEFVMRA QKSVYHLSCF CCCVCERQLQ KGDEFVLKEG QLLCKGDYEK
160 170 180 190 200
ERELLSLVSP AASDSGKSDD EESLCKSAHG AGKGTAEEGK DHKRPKRPRT
210 220 230 240 250
ILTTQQRRAF KASFEVSSKP CRKVRETLAA ETGLSVRVVQ VWFQNQRAKM
260 270 280 290 300
KKLARRQQQQ QQDQQNTQRL SSAQTNGGGS AGMEGIMNPY TALPTPQQLL
310 320 330 340 350
AIEQSVYSSD PFRQGLTPPQ MPGDHMHPYG AEPLFHDLDS DDTSLSNLGD
360 370 380
CFLATSEAGP LQSRVGNPID HLYSMQNSYF TS
Isoform LMX1A-4AB (identifier: Q8TE12-2) [UniParc]FASTAAdd to basket
The sequence of this isoform differs from the canonical sequence as follows:
1-249: Missing.
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_083732 | 97 | C → S in DFNA7; unknown pathological significance. 1 Publication | 1 | |
Natural variantiVAR_083733 | 126 | E → K1 Publication | 1 | |
Natural variantiVAR_083734 | 241 | V → L in DFNA7. 1 Publication | 1 | |
Natural variantiVAR_083735 | 369 | I → T Found in autosomal recessive sensorineural hearing loss; unknown pathological significance. 1 Publication | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_003112 | 1 – 249 | Missing in isoform LMX1A-4AB. 1 PublicationAdd BLAST | 249 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AY078398 , AY078391, AY078392, AY078393, AY078394, AY078395, AY078396, AY078397 Genomic DNA Translation: AAL82892.1 AY078398, AY078396, AY078397 Genomic DNA Translation: AAL82893.1 AK127724 mRNA Translation: BAG54558.1 AL160058 Genomic DNA No translation available. AL390730 Genomic DNA No translation available. CH471067 Genomic DNA Translation: EAW90744.1 BC119743 mRNA Translation: AAI19744.1 BC119744 mRNA Translation: AAI19745.1 |
CCDSi | CCDS1247.1 [Q8TE12-1] |
RefSeqi | NP_001167540.1, NM_001174069.1 [Q8TE12-1] NP_796372.1, NM_177398.3 [Q8TE12-1] |
Genome annotation databases
Ensembli | ENST00000294816; ENSP00000294816; ENSG00000162761 [Q8TE12-1] ENST00000342310; ENSP00000340226; ENSG00000162761 [Q8TE12-1] ENST00000367893; ENSP00000356868; ENSG00000162761 [Q8TE12-1] |
GeneIDi | 4009 |
KEGGi | hsa:4009 |
UCSCi | uc001gcz.3, human [Q8TE12-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AY078398 , AY078391, AY078392, AY078393, AY078394, AY078395, AY078396, AY078397 Genomic DNA Translation: AAL82892.1 AY078398, AY078396, AY078397 Genomic DNA Translation: AAL82893.1 AK127724 mRNA Translation: BAG54558.1 AL160058 Genomic DNA No translation available. AL390730 Genomic DNA No translation available. CH471067 Genomic DNA Translation: EAW90744.1 BC119743 mRNA Translation: AAI19744.1 BC119744 mRNA Translation: AAI19745.1 |
CCDSi | CCDS1247.1 [Q8TE12-1] |
RefSeqi | NP_001167540.1, NM_001174069.1 [Q8TE12-1] NP_796372.1, NM_177398.3 [Q8TE12-1] |
3D structure databases
SMRi | Q8TE12 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 110194, 5 interactors |
IntActi | Q8TE12, 1 interactor |
STRINGi | 9606.ENSP00000340226 |
PTM databases
iPTMneti | Q8TE12 |
PhosphoSitePlusi | Q8TE12 |
Polymorphism and mutation databases
BioMutai | LMX1A |
DMDMi | 27923801 |
Proteomic databases
MassIVEi | Q8TE12 |
PaxDbi | Q8TE12 |
PeptideAtlasi | Q8TE12 |
PRIDEi | Q8TE12 |
ProteomicsDBi | 74389 [Q8TE12-1] 74390 [Q8TE12-2] |
Protocols and materials databases
Antibodypediai | 20523, 210 antibodies |
DNASUi | 4009 |
Genome annotation databases
Ensembli | ENST00000294816; ENSP00000294816; ENSG00000162761 [Q8TE12-1] ENST00000342310; ENSP00000340226; ENSG00000162761 [Q8TE12-1] ENST00000367893; ENSP00000356868; ENSG00000162761 [Q8TE12-1] |
GeneIDi | 4009 |
KEGGi | hsa:4009 |
UCSCi | uc001gcz.3, human [Q8TE12-1] |
Organism-specific databases
CTDi | 4009 |
DisGeNETi | 4009 |
EuPathDBi | HostDB:ENSG00000162761.14 |
GeneCardsi | LMX1A |
HGNCi | HGNC:6653, LMX1A |
HPAi | ENSG00000162761, Tissue enhanced (brain, pituitary gland) |
MalaCardsi | LMX1A |
MIMi | 600298, gene 601412, phenotype |
neXtProti | NX_Q8TE12 |
OpenTargetsi | ENSG00000162761 |
PharmGKBi | PA30416 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0490, Eukaryota |
GeneTreei | ENSGT00940000157774 |
HOGENOMi | CLU_027802_0_0_1 |
InParanoidi | Q8TE12 |
OMAi | STGMEGI |
OrthoDBi | 737134at2759 |
PhylomeDBi | Q8TE12 |
TreeFami | TF315442 |
Enzyme and pathway databases
PathwayCommonsi | Q8TE12 |
SIGNORi | Q8TE12 |
Miscellaneous databases
BioGRID-ORCSi | 4009, 4 hits in 867 CRISPR screens |
ChiTaRSi | LMX1A, human |
GeneWikii | LMX1A |
GenomeRNAii | 4009 |
Pharosi | Q8TE12, Tbio |
PROi | PR:Q8TE12 |
RNActi | Q8TE12, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000162761, Expressed in pituitary gland and 62 other tissues |
Genevisiblei | Q8TE12, HS |
Family and domain databases
CDDi | cd00086, homeodomain, 1 hit cd09370, LIM1_Lmx1a, 1 hit |
InterProi | View protein in InterPro IPR009057, Homeobox-like_sf IPR017970, Homeobox_CS IPR001356, Homeobox_dom IPR042688, Lmx1a_LIM1 IPR001781, Znf_LIM |
Pfami | View protein in Pfam PF00046, Homeodomain, 1 hit PF00412, LIM, 2 hits |
SMARTi | View protein in SMART SM00389, HOX, 1 hit SM00132, LIM, 2 hits |
SUPFAMi | SSF46689, SSF46689, 1 hit |
PROSITEi | View protein in PROSITE PS00027, HOMEOBOX_1, 1 hit PS50071, HOMEOBOX_2, 1 hit PS00478, LIM_DOMAIN_1, 2 hits PS50023, LIM_DOMAIN_2, 2 hits |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | LMX1A_HUMAN | |
Accessioni | Q8TE12Primary (citable) accession number: Q8TE12 Secondary accession number(s): B3KXP6 Q8TE11 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | January 27, 2003 |
Last sequence update: | June 1, 2002 | |
Last modified: | December 2, 2020 | |
This is version 160 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Reference proteomeDocuments
- Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - Human chromosome 1
Human chromosome 1: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations