Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

LIM homeobox transcription factor 1-alpha

Gene

LMX1A

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

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 keyPosition(s)DescriptionActionsGraphical viewLength
DNA bindingi195 – 254HomeoboxPROSITE-ProRule annotationAdd BLAST60

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionActivator, Developmental protein, DNA-binding
Biological processTranscription, Transcription regulation
LigandMetal-binding, Zinc

Enzyme and pathway databases

SIGNORiQ8TE12

Names & Taxonomyi

Protein namesi
Recommended name:
LIM homeobox transcription factor 1-alpha
Alternative name(s):
LIM/homeobox protein 1.1
Short name:
LMX-1.1
LIM/homeobox protein LMX1A
Gene namesi
Name:LMX1A
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000162761.14
HGNCiHGNC:6653 LMX1A
MIMi600298 gene
neXtProtiNX_Q8TE12

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

Organism-specific databases

DisGeNETi4009
OpenTargetsiENSG00000162761
PharmGKBiPA30416

Polymorphism and mutation databases

BioMutaiLMX1A
DMDMi27923801

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000758251 – 382LIM homeobox transcription factor 1-alphaAdd BLAST382

Proteomic databases

PaxDbiQ8TE12
PeptideAtlasiQ8TE12
PRIDEiQ8TE12
ProteomicsDBi74389
74390 [Q8TE12-2]

PTM databases

iPTMnetiQ8TE12
PhosphoSitePlusiQ8TE12

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

BgeeiENSG00000162761 Expressed in 42 organ(s), highest expression level in pituitary gland
CleanExiHS_LMX1A
GenevisibleiQ8TE12 HS

Organism-specific databases

HPAiHPA028051
HPA030088

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
GRB2P629933EBI-10692065,EBI-401755

Protein-protein interaction databases

BioGridi110194, 5 interactors
IntActiQ8TE12, 1 interactor
STRINGi9606.ENSP00000294816

Structurei

3D structure databases

ProteinModelPortaliQ8TE12
SMRiQ8TE12
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini33 – 92LIM zinc-binding 1PROSITE-ProRule annotationAdd BLAST60
Domaini92 – 154LIM zinc-binding 2PROSITE-ProRule annotationAdd BLAST63

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi240 – 274Gln-richAdd BLAST35
Compositional biasi257 – 265Poly-Gln9

Keywords - Domaini

Homeobox, LIM domain, Repeat

Phylogenomic databases

eggNOGiKOG0490 Eukaryota
ENOG410YIJ3 LUCA
GeneTreeiENSGT00760000118921
HOGENOMiHOG000231629
HOVERGENiHBG052335
InParanoidiQ8TE12
KOiK09371
OMAiNDSLWHE
OrthoDBiEOG091G09Z3
PhylomeDBiQ8TE12
TreeFamiTF315442

Family and domain databases

CDDicd00086 homeodomain, 1 hit
InterProiView protein in InterPro
IPR009057 Homeobox-like_sf
IPR017970 Homeobox_CS
IPR001356 Homeobox_dom
IPR001781 Znf_LIM
PfamiView protein in Pfam
PF00046 Homeobox, 1 hit
PF00412 LIM, 2 hits
SMARTiView protein in SMART
SM00389 HOX, 1 hit
SM00132 LIM, 2 hits
SUPFAMiSSF46689 SSF46689, 1 hit
PROSITEiView 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

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket
Isoform 1 (identifier: Q8TE12-1) [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
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
Length:382
Mass (Da):42,747
Last modified:June 1, 2002 - v1
Checksum:i55424762757FF5FD
GO
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.

Show »
Length:133
Mass (Da):14,615
Checksum:iD58B4EF35A69D5F1
GO

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0031121 – 249Missing in isoform LMX1A-4AB. 1 PublicationAdd BLAST249

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
CCDSiCCDS1247.1 [Q8TE12-1]
RefSeqiNP_001167540.1, NM_001174069.1 [Q8TE12-1]
NP_796372.1, NM_177398.3 [Q8TE12-1]
UniGeneiHs.667312

Genome annotation databases

EnsembliENST00000294816; ENSP00000294816; ENSG00000162761 [Q8TE12-1]
ENST00000342310; ENSP00000340226; ENSG00000162761 [Q8TE12-1]
ENST00000367893; ENSP00000356868; ENSG00000162761 [Q8TE12-1]
GeneIDi4009
KEGGihsa:4009
UCSCiuc001gcz.3 human [Q8TE12-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar 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
CCDSiCCDS1247.1 [Q8TE12-1]
RefSeqiNP_001167540.1, NM_001174069.1 [Q8TE12-1]
NP_796372.1, NM_177398.3 [Q8TE12-1]
UniGeneiHs.667312

3D structure databases

ProteinModelPortaliQ8TE12
SMRiQ8TE12
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi110194, 5 interactors
IntActiQ8TE12, 1 interactor
STRINGi9606.ENSP00000294816

PTM databases

iPTMnetiQ8TE12
PhosphoSitePlusiQ8TE12

Polymorphism and mutation databases

BioMutaiLMX1A
DMDMi27923801

Proteomic databases

PaxDbiQ8TE12
PeptideAtlasiQ8TE12
PRIDEiQ8TE12
ProteomicsDBi74389
74390 [Q8TE12-2]

Protocols and materials databases

DNASUi4009
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000294816; ENSP00000294816; ENSG00000162761 [Q8TE12-1]
ENST00000342310; ENSP00000340226; ENSG00000162761 [Q8TE12-1]
ENST00000367893; ENSP00000356868; ENSG00000162761 [Q8TE12-1]
GeneIDi4009
KEGGihsa:4009
UCSCiuc001gcz.3 human [Q8TE12-1]

Organism-specific databases

CTDi4009
DisGeNETi4009
EuPathDBiHostDB:ENSG00000162761.14
GeneCardsiLMX1A
HGNCiHGNC:6653 LMX1A
HPAiHPA028051
HPA030088
MIMi600298 gene
neXtProtiNX_Q8TE12
OpenTargetsiENSG00000162761
PharmGKBiPA30416
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0490 Eukaryota
ENOG410YIJ3 LUCA
GeneTreeiENSGT00760000118921
HOGENOMiHOG000231629
HOVERGENiHBG052335
InParanoidiQ8TE12
KOiK09371
OMAiNDSLWHE
OrthoDBiEOG091G09Z3
PhylomeDBiQ8TE12
TreeFamiTF315442

Enzyme and pathway databases

SIGNORiQ8TE12

Miscellaneous databases

ChiTaRSiLMX1A human
GeneWikiiLMX1A
GenomeRNAii4009
PROiPR:Q8TE12
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000162761 Expressed in 42 organ(s), highest expression level in pituitary gland
CleanExiHS_LMX1A
GenevisibleiQ8TE12 HS

Family and domain databases

CDDicd00086 homeodomain, 1 hit
InterProiView protein in InterPro
IPR009057 Homeobox-like_sf
IPR017970 Homeobox_CS
IPR001356 Homeobox_dom
IPR001781 Znf_LIM
PfamiView protein in Pfam
PF00046 Homeobox, 1 hit
PF00412 LIM, 2 hits
SMARTiView protein in SMART
SM00389 HOX, 1 hit
SM00132 LIM, 2 hits
SUPFAMiSSF46689 SSF46689, 1 hit
PROSITEiView 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
ProtoNetiSearch...

Entry informationi

Entry nameiLMX1A_HUMAN
AccessioniPrimary (citable) accession number: Q8TE12
Secondary accession number(s): B3KXP6
, Q0VDB5, Q5VWG4, Q8TE11
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 27, 2003
Last sequence update: June 1, 2002
Last modified: November 7, 2018
This is version 145 of the entry and version 1 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

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again