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Protein

LIM homeobox transcription factor 1-alpha

Gene

LMX1A

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-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

HGNCiHGNC:6653. LMX1A.

Subcellular locationi

  • Nucleus PROSITE-ProRule annotation

GO - Cellular componenti

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.

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.
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

InterProiView protein in InterPro
IPR009057. Homeobox-like.
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.
AL390730, AL160058 Genomic DNA. Translation: CAH73258.1.
AL160058, AL390730 Genomic DNA. Translation: CAH71967.1.
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

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: August 30, 2017
This is version 136 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