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UniProtKB - Q8TE12 (LMX1A_HUMAN)

Entry version 160 (02 Dec 2020)
Sequence version 1 (01 Jun 2002)
Previous versions | rss
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Protein

LIM homeobox transcription factor 1-alpha

Gene

LMX1A

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<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

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
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section specifies the position and type of each DNA-binding domain present within the protein.<p><a href='/help/dna_bind' target='_top'>More...</a></p>DNA bindingi195 – 254HomeoboxPROSITE-ProRule annotationAdd BLAST60

<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

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

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

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q8TE12

SIGNOR Signaling Network Open Resource

More...SIGNORi		Q8TE12

<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

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:LMX1A
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 1

Organism-specific databases

Eukaryotic Pathogen and Host Database Resources

More...EuPathDBi		HostDB:ENSG00000162761.14

Human Gene Nomenclature Database

More...HGNCi		HGNC:6653, LMX1A

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		600298, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q8TE12

<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

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

Keywords - Cellular componenti

Nucleus

<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

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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 OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_08373297C → S in DFNA7; unknown pathological significance. 1 Publication1
Natural variantiVAR_083734241V → L in DFNA7. 1 Publication1

Keywords - Diseasei

Deafness, Disease mutation, Non-syndromic deafness

Organism-specific databases

DisGeNET

More...DisGeNETi		4009

MalaCards human disease database

More...MalaCardsi		LMX1A
MIMi601412, phenotype

Open Targets

More...OpenTargetsi		ENSG00000162761

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA30416

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q8TE12, Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		LMX1A

Domain mapping of disease mutations (DMDM)

More...DMDMi		27923801

<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

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000758251 – 382LIM homeobox transcription factor 1-alphaAdd BLAST382

Proteomic databases

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q8TE12

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		Q8TE12

PeptideAtlas

More...PeptideAtlasi		Q8TE12

PRoteomics IDEntifications database

More...PRIDEi		Q8TE12

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		74389 [Q8TE12-1]
74390 [Q8TE12-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q8TE12

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		Q8TE12

<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

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>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

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000162761, Expressed in pituitary gland and 62 other tissues

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q8TE12, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000162761, Tissue enhanced (brain, pituitary gland)

<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

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		110194, 5 interactors

Protein interaction database and analysis system

More...IntActi		Q8TE12, 1 interactor

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000340226

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q8TE12, protein

<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

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		Q8TE12

Database of comparative protein structure models

More...ModBasei		Search...

<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

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini33 – 92LIM zinc-binding 1PROSITE-ProRule annotationAdd BLAST60
Domaini92 – 154LIM zinc-binding 2PROSITE-ProRule annotationAdd BLAST63

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi240 – 274Gln-richAdd BLAST35
Compositional biasi257 – 265Poly-Gln9

Keywords - Domaini

Homeobox, LIM domain, Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG0490, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000157774

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_027802_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q8TE12

Identification of Orthologs from Complete Genome Data

More...OMAi		STGMEGI

Database of Orthologous Groups

More...OrthoDBi		737134at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q8TE12

TreeFam database of animal gene trees

More...TreeFami		TF315442

Family and domain databases

Conserved Domains Database

More...CDDi		cd00086, homeodomain, 1 hit
cd09370, LIM1_Lmx1a, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR009057, Homeobox-like_sf
IPR017970, Homeobox_CS
IPR001356, Homeobox_dom
IPR042688, Lmx1a_LIM1
IPR001781, Znf_LIM

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00046, Homeodomain, 1 hit
PF00412, LIM, 2 hits

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00389, HOX, 1 hit
SM00132, LIM, 2 hits

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF46689, SSF46689, 1 hit

PROSITE; a protein domain and family database

More...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

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket
Isoform 1 (identifier: Q8TE12-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_08373297C → S in DFNA7; unknown pathological significance. 1 Publication1
Natural variantiVAR_083733126E → K1 Publication1
Natural variantiVAR_083734241V → L in DFNA7. 1 Publication1
Natural variantiVAR_083735369I → T Found in autosomal recessive sensorineural hearing loss; unknown pathological significance. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0031121 – 249Missing in isoform LMX1A-4AB. 1 PublicationAdd BLAST249

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...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]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000294816; ENSP00000294816; ENSG00000162761 [Q8TE12-1]
ENST00000342310; ENSP00000340226; ENSG00000162761 [Q8TE12-1]
ENST00000367893; ENSP00000356868; ENSG00000162761 [Q8TE12-1]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		4009

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:4009

UCSC genome browser

More...UCSCi		uc001gcz.3, human [Q8TE12-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<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

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

3D structure databases

SMRiQ8TE12
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi110194, 5 interactors
IntActiQ8TE12, 1 interactor
STRINGi9606.ENSP00000340226

PTM databases

iPTMnetiQ8TE12
PhosphoSitePlusiQ8TE12

Polymorphism and mutation databases

BioMutaiLMX1A
DMDMi27923801

Proteomic databases

MassIVEiQ8TE12
PaxDbiQ8TE12
PeptideAtlasiQ8TE12
PRIDEiQ8TE12
ProteomicsDBi74389 [Q8TE12-1]
74390 [Q8TE12-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		20523, 210 antibodies

The DNASU plasmid repository

More...DNASUi		4009

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

Comparative Toxicogenomics Database

More...CTDi		4009
DisGeNETi4009
EuPathDBiHostDB:ENSG00000162761.14

GeneCards: human genes, protein and diseases

More...GeneCardsi		LMX1A
HGNCiHGNC:6653, LMX1A
HPAiENSG00000162761, Tissue enhanced (brain, pituitary gland)
MalaCardsiLMX1A
MIMi600298, gene
601412, phenotype
neXtProtiNX_Q8TE12
OpenTargetsiENSG00000162761
PharmGKBiPA30416

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG0490, Eukaryota
GeneTreeiENSGT00940000157774
HOGENOMiCLU_027802_0_0_1
InParanoidiQ8TE12
OMAiSTGMEGI
OrthoDBi737134at2759
PhylomeDBiQ8TE12
TreeFamiTF315442

Enzyme and pathway databases

PathwayCommonsiQ8TE12
SIGNORiQ8TE12

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		4009, 4 hits in 867 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		LMX1A, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		LMX1A

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		4009
PharosiQ8TE12, Tbio

Protein Ontology

More...PROi		PR:Q8TE12
RNActiQ8TE12, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000162761, Expressed in pituitary gland and 62 other tissues
GenevisibleiQ8TE12, HS

Family and domain databases

CDDicd00086, homeodomain, 1 hit
cd09370, LIM1_Lmx1a, 1 hit
InterProiView protein in InterPro
IPR009057, Homeobox-like_sf
IPR017970, Homeobox_CS
IPR001356, Homeobox_dom
IPR042688, Lmx1a_LIM1
IPR001781, Znf_LIM
PfamiView protein in Pfam
PF00046, Homeodomain, 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

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<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 subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiLMX1A_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q8TE12
Secondary accession number(s): B3KXP6
, Q0VDB5, Q5VWG4, Q8TE11
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated 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.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<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

Reference proteome

Documents

  1. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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