LMX1A

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 regulatory region sequence-specific DNA binding Source: ParkinsonsUK-UCL

View the complete GO annotation on QuickGO ...

GO - Biological processⁱ

axon guidance Source: Ensembl
cerebellum development Source: Ensembl
dentate gyrus development Source: Ensembl
dopaminergic neuron differentiation
Source: ParkinsonsUK-UCL
Traceable author statementⁱ
- 24431302
locomotory behavior Source: Ensembl
memory Source: Ensembl
midbrain dopaminergic neuron differentiation Source: ParkinsonsUK-UCL
negative regulation of neuron differentiation Source: Ensembl
olfactory behavior Source: Ensembl
positive regulation of transcription by RNA polymerase II Source: ParkinsonsUK-UCL
regulation of cell growth Source: Ensembl
synapse organization Source: Ensembl

View the complete GO annotation on QuickGO ...

Keywordsⁱ

Molecular function	Activator, Developmental protein, DNA-binding
Biological process	Transcription, Transcription regulation
Ligand	Metal-binding, Zinc

Enzyme and pathway databases

SIGNORⁱ	Q8TE12

SIGNORⁱ

Q8TE12

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
Organismⁱ	Homo sapiens (Human)
Taxonomic identifierⁱ	9606 [NCBI]
Taxonomic lineageⁱ	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome 1

Organism-specific databases

EuPathDBⁱ	HostDB:ENSG00000162761.14
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:6653 LMX1A
MIMⁱ	600298 gene
neXtProtⁱ	NX_Q8TE12

Keywords - Cellular componentⁱ

Nucleus

Pathology & Biotechⁱ

Organism-specific databases

DisGeNET More...DisGeNETⁱ	4009
Open Targets More...OpenTargetsⁱ	ENSG00000162761
PharmGKBⁱ	PA30416

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

PaxDbⁱ	Q8TE12
PeptideAtlas More...PeptideAtlasⁱ	Q8TE12
PRIDEⁱ	Q8TE12
ProteomicsDBⁱ	74389 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 42 organ(s), highest expression level in pituitary gland
CleanExⁱ	HS_LMX1A
Genevisibleⁱ	Q8TE12 HS

Organism-specific databases

Human Protein Atlas More...HPAⁱ	HPA028051 HPA030088

HPAⁱ

HPA028051
HPA030088

Interactionⁱ

Binary interactionsⁱ

With	Entry	#Exp.	IntAct	Notes
GRB2	P62993	3	EBI-10692065,EBI-401755

With

Entry

#Exp.

IntAct

Notes

GRB2

P62993

3

EBI-10692065,EBI-401755

Protein-protein interaction databases

BioGridⁱ	110194, 5 interactors
IntActⁱ	Q8TE12, 1 interactor
STRINGⁱ	9606.ENSP00000294816

Structureⁱ

3D structure databases

ProteinModelPortalⁱ	Q8TE12
SMRⁱ	Q8TE12
ModBaseⁱ	Search...
MobiDBⁱ	Search...

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, Repeat

Phylogenomic databases

eggNOGⁱ	KOG0490 Eukaryota ENOG410YIJ3 LUCA
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00760000118921
HOGENOMⁱ	HOG000231629
HOVERGENⁱ	HBG052335
InParanoidⁱ	Q8TE12
KEGG Orthology (KO) More...KOⁱ	K09371
OMAⁱ	NDSLWHE
Database of Orthologous Groups More...OrthoDBⁱ	EOG091G09Z3
PhylomeDBⁱ	Q8TE12
TreeFamⁱ	TF315442

Family and domain databases

Conserved Domains Database More...CDDⁱ	cd00086 homeodomain, 1 hit
InterProⁱ	View protein in InterPro IPR009057 Homeobox-like_sf IPR017970 Homeobox_CS IPR001356 Homeobox_dom IPR001781 Znf_LIM
Pfam protein domain database More...Pfamⁱ	View protein in Pfam PF00046 Homeobox, 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

Sequences (2)ⁱ

Sequence statusⁱ: Complete.

This entry describes 2 isoformsⁱ produced by alternative splicing. Align Add to basket

Isoform 1 (identifier: Q8TE12-1) [UniParc]FASTA Add 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]FASTA Add to basket

The sequence of this isoform differs from the canonical sequence as follows:
1-249: Missing.

« Hide

        10         20         30         40         50
MKKLARRQQQ QQQDQQNTQR LSSAQTNGGG SAGMEGIMNP YTALPTPQQL 
        60         70         80         90        100
LAIEQSVYSS DPFRQGLTPP QMPGDHMHPY GAEPLFHDLD SDDTSLSNLG 
       110        120        130 
DCFLATSEAG PLQSRVGNPI DHLYSMQNSY FTS

Show »

Length:133

Mass (Da):14,615

Checksum:ⁱD58B4EF35A69D5F1

GO

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 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
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS1247.1 [Q8TE12-1]
NCBI Reference Sequences More...RefSeqⁱ	NP_001167540.1, NM_001174069.1 [Q8TE12-1] NP_796372.1, NM_177398.3 [Q8TE12-1]
UniGeneⁱ	Hs.667312

Genome annotation databases

Ensemblⁱ	ENST00000294816; ENSP00000294816; ENSG00000162761 [Q8TE12-1] ENST00000342310; ENSP00000340226; ENSG00000162761 [Q8TE12-1] ENST00000367893; ENSP00000356868; ENSG00000162761 [Q8TE12-1]
GeneIDⁱ	4009
KEGGⁱ	hsa:4009
UCSC genome browser More...UCSCⁱ	uc001gcz.3 human [Q8TE12-1]

Keywords - Coding sequence diversityⁱ

Alternative splicing

Similar proteinsⁱ

100% Identity
90% Identity
50% Identity

Protein	Similar proteins		Species	Score	Length	Source
Q8TE12	LIM homeobox transcription factor 1 alpha		PANTR		382	UniRef100_Q8TE12
LIM homeobox transcription factor 1 alpha		CERAT		382
LIM homeobox transcription factor 1 alpha		MACFA		382
LMX1A isoform 1		PONAB		382
Uncharacterized protein		CALJA		382
+11
Q8TE12-2	Uncharacterized protein		MACMU		275	UniRef100_Q8TE12-2
UPI0008402316		CALJA		387

Protein	Similar proteins		Species	Score	Length	Source
Q8TE12	LIM homeobox transcription factor 1-alpha		MOUSE		382	UniRef90_Q9JKU8
LIM homeobox transcription factor 1-alpha		MESAU		382
LIM homeobox transcription factor 1-alpha		FUKDA		414
Uncharacterized protein		FELCA		382
Uncharacterized protein		MUSPF		382
+101

Protein	Similar proteins		Species	Score	Length	Source
Q8TE12	LIM homeobox transcription factor 1-beta		MOUSE		395	UniRef50_O88609
LIM homeobox transcription factor 1-beta.1		XENLA		400
LIM/homeobox protein LMX-1.2		CHICK		400
LIM homeobox transcription factor 1-beta (Fragment)		MESAU		369
LIM homeobox transcription factor 1 beta		CALJA		395
+526

Cross-referencesⁱ

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	AY078398 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]
UniGeneⁱ	Hs.667312

3D structure databases

ProteinModelPortalⁱ	Q8TE12
SMRⁱ	Q8TE12
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Protein-protein interaction databases

BioGridⁱ	110194, 5 interactors
IntActⁱ	Q8TE12, 1 interactor
STRINGⁱ	9606.ENSP00000294816

PTM databases

iPTMnetⁱ	Q8TE12
PhosphoSitePlusⁱ	Q8TE12

Polymorphism and mutation databases

BioMutaⁱ	LMX1A
DMDMⁱ	27923801

Proteomic databases

PaxDbⁱ	Q8TE12
PeptideAtlasⁱ	Q8TE12
PRIDEⁱ	Q8TE12
ProteomicsDBⁱ	74389 74390 [Q8TE12-2]

Protocols and materials databases

The DNASU plasmid repository More...DNASUⁱ	4009
Structural Biology Knowledgebase	Search...

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	HPA028051 HPA030088
MIMⁱ	600298 gene
neXtProtⁱ	NX_Q8TE12
OpenTargetsⁱ	ENSG00000162761
PharmGKBⁱ	PA30416
GenAtlas: human gene database More...GenAtlasⁱ	Search...

Phylogenomic databases

eggNOGⁱ	KOG0490 Eukaryota ENOG410YIJ3 LUCA
GeneTreeⁱ	ENSGT00760000118921
HOGENOMⁱ	HOG000231629
HOVERGENⁱ	HBG052335
InParanoidⁱ	Q8TE12
KOⁱ	K09371
OMAⁱ	NDSLWHE
OrthoDBⁱ	EOG091G09Z3
PhylomeDBⁱ	Q8TE12
TreeFamⁱ	TF315442

Enzyme and pathway databases

SIGNORⁱ	Q8TE12

SIGNORⁱ

Q8TE12

Miscellaneous databases

ChiTaRSⁱ	LMX1A human
GeneWikiⁱ	LMX1A
GenomeRNAiⁱ	4009
Protein Ontology More...PROⁱ	PR:Q8TE12
SOURCEⁱ	Search...

Gene expression databases

Bgeeⁱ	ENSG00000162761 Expressed in 42 organ(s), highest expression level in pituitary gland
CleanExⁱ	HS_LMX1A
Genevisibleⁱ	Q8TE12 HS

Family and domain databases

CDDⁱ	cd00086 homeodomain, 1 hit
InterProⁱ	View protein in InterPro IPR009057 Homeobox-like_sf IPR017970 Homeobox_CS IPR001356 Homeobox_dom IPR001781 Znf_LIM
Pfamⁱ	View protein in Pfam PF00046 Homeobox, 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...

Entry informationⁱ

Entry nameⁱ	LMX1A_HUMAN
Accessionⁱ	Q8TE12Primary (citable) accession number: Q8TE12 Secondary accession number(s): B3KXP6 , Q0VDB5, Q5VWG4, Q8TE11
Entry historyⁱ	Integrated 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 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

Complete proteome, Reference proteome

Documents

Human chromosome 1
Human chromosome 1: entries, gene names and cross-references to MIM
MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

UniProtKB

UniParc

Help

UniRef

Proteomes

Annotation systems

Supporting data

UniProtKB - Q8TE12 (LMX1A_HUMAN)

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LIM homeobox transcription factor 1-alpha

Select a section on the left to see content.

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Regions

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

Enzyme and pathway databases

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

Organism-specific databases

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Nucleus

Nucleus

Keywords - Cellular componenti

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Organism-specific databases

Polymorphism and mutation databases

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Proteomic databases

PTM databases

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Organism-specific databases

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

Protein-protein interaction databases

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Compositional bias

Keywords - Domaini

Phylogenomic databases

Family and domain databases

Alternative sequence

Sequence databases

Genome annotation databases

Keywords - Coding sequence diversityi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

3D structure databases

Protein-protein interaction databases

PTM databases

Polymorphism and mutation databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Enzyme and pathway databases

Miscellaneous databases

Gene expression databases

Family and domain databases

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Documents

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Functionⁱ

GO - Molecular functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Keywords - Cellular componentⁱ

Pathology & Biotechⁱ

PTM / Processingⁱ

Expressionⁱ

Interactionⁱ

Structureⁱ

Family & Domainsⁱ

Keywords - Domainⁱ

Keywords - Coding sequence diversityⁱ

Cross-referencesⁱ

Entry informationⁱ

Miscellaneousⁱ

Keywords - Technical termⁱ