Details for: LMX1A

Gene ID: 4009

Symbol: LMX1A

Ensembl ID: ENSG00000162761

Description: LIM homeobox transcription factor 1 alpha

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: neuronal brush cell (CL0000555)
    Fold Change: 4.88
    Marker Score: 16379
  • Cell Name: progenitor cell (CL0011026)
    Fold Change: 4.7
    Marker Score: 30281
  • Cell Name: retinal cone cell (CL0000573)
    Fold Change: 3.56
    Marker Score: 10219
  • Cell Name: CNS interneuron (CL0000402)
    Fold Change: 3.26
    Marker Score: 1565
  • Cell Name: blood vessel endothelial cell (CL0000071)
    Fold Change: 2.22
    Marker Score: 2233
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 2.03
    Marker Score: 3855
  • Cell Name: plasma cell (CL0000786)
    Fold Change: 1.97
    Marker Score: 2197
  • Cell Name: kidney proximal convoluted tubule epithelial cell (CL1000838)
    Fold Change: 1.79
    Marker Score: 3714
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 1.61
    Marker Score: 1169
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 1.51
    Marker Score: 1509
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 1.26
    Marker Score: 2554
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 1.17
    Marker Score: 487
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 1.15
    Marker Score: 4804
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 1.09
    Marker Score: 503
  • Cell Name: cerebellar granule cell precursor (CL0002362)
    Fold Change: 1.08
    Marker Score: 607
  • Cell Name: renal beta-intercalated cell (CL0002201)
    Fold Change: 1.05
    Marker Score: 333
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.05
    Marker Score: 16442
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 1.04
    Marker Score: 704
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 1.01
    Marker Score: 10390
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 1
    Marker Score: 528.5
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71814
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48038
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.99
    Marker Score: 509
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30408
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.98
    Marker Score: 462
  • Cell Name: goblet cell (CL0000160)
    Fold Change: 0.97
    Marker Score: 6419
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2413
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.94
    Marker Score: 5355
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.93
    Marker Score: 373
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.92
    Marker Score: 2741
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.91
    Marker Score: 327
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5290
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.82
    Marker Score: 491
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1262
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.78
    Marker Score: 708
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.76
    Marker Score: 396
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.72
    Marker Score: 462
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: 0.7
    Marker Score: 542
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: 0.68
    Marker Score: 377
  • Cell Name: myeloid cell (CL0000763)
    Fold Change: 0.65
    Marker Score: 1049
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.65
    Marker Score: 3923
  • Cell Name: interneuron (CL0000099)
    Fold Change: 0.61
    Marker Score: 280
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.57
    Marker Score: 274
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.56
    Marker Score: 444
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 0.55
    Marker Score: 175
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 0.55
    Marker Score: 560
  • Cell Name: neuronal receptor cell (CL0000006)
    Fold Change: 0.53
    Marker Score: 235
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.47
    Marker Score: 1097
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 0.47
    Marker Score: 278
  • Cell Name: mast cell (CL0000097)
    Fold Change: 0.44
    Marker Score: 255
  • Cell Name: parietal epithelial cell (CL1000452)
    Fold Change: 0.41
    Marker Score: 150
  • Cell Name: macrophage (CL0000235)
    Fold Change: 0.37
    Marker Score: 415
  • Cell Name: B cell (CL0000236)
    Fold Change: 0.37
    Marker Score: 349
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.37
    Marker Score: 118
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: 0.35
    Marker Score: 90
  • Cell Name: choroid plexus epithelial cell (CL0000706)
    Fold Change: 0.34
    Marker Score: 316
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: 0.33
    Marker Score: 116
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.33
    Marker Score: 104
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 0.28
    Marker Score: 245
  • Cell Name: pericyte (CL0000669)
    Fold Change: 0.27
    Marker Score: 160
  • Cell Name: retinal pigment epithelial cell (CL0002586)
    Fold Change: 0.26
    Marker Score: 77
  • Cell Name: glial cell (CL0000125)
    Fold Change: 0.26
    Marker Score: 282
  • Cell Name: podocyte (CL0000653)
    Fold Change: 0.25
    Marker Score: 93
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.23
    Marker Score: 65
  • Cell Name: megakaryocyte (CL0000556)
    Fold Change: 0.23
    Marker Score: 129
  • Cell Name: T cell (CL0000084)
    Fold Change: 0.2
    Marker Score: 348
  • Cell Name: endothelial cell (CL0000115)
    Fold Change: 0.18
    Marker Score: 165
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.17
    Marker Score: 43
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.17
    Marker Score: 57
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.17
    Marker Score: 64
  • Cell Name: brainstem motor neuron (CL2000047)
    Fold Change: 0.16
    Marker Score: 94
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: 0.16
    Marker Score: 85
  • Cell Name: mesenchymal stem cell (CL0000134)
    Fold Change: 0.16
    Marker Score: 248
  • Cell Name: fibroblast (CL0000057)
    Fold Change: 0.16
    Marker Score: 154
  • Cell Name: male germ cell (CL0000015)
    Fold Change: 0.16
    Marker Score: 45
  • Cell Name: endothelial cell of lymphatic vessel (CL0002138)
    Fold Change: 0.15
    Marker Score: 96
  • Cell Name: epithelial cell of alveolus of lung (CL0010003)
    Fold Change: 0.15
    Marker Score: 68
  • Cell Name: mucus secreting cell (CL0000319)
    Fold Change: 0.15
    Marker Score: 37
  • Cell Name: skin fibroblast (CL0002620)
    Fold Change: 0.14
    Marker Score: 36
  • Cell Name: late promyelocyte (CL0002151)
    Fold Change: 0.14
    Marker Score: 34
  • Cell Name: ON retinal ganglion cell (CL4023032)
    Fold Change: 0.14
    Marker Score: 37
  • Cell Name: smooth muscle cell of prostate (CL1000487)
    Fold Change: 0.13
    Marker Score: 33
  • Cell Name: type L enteroendocrine cell (CL0002279)
    Fold Change: 0.13
    Marker Score: 35
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.13
    Marker Score: 37
  • Cell Name: meningeal macrophage (CL0000879)
    Fold Change: 0.12
    Marker Score: 35
  • Cell Name: mesothelial cell (CL0000077)
    Fold Change: 0.12
    Marker Score: 49.5
  • Cell Name: intestinal crypt stem cell of large intestine (CL0009016)
    Fold Change: 0.12
    Marker Score: 37
  • Cell Name: mesothelial fibroblast (CL4023054)
    Fold Change: 0.12
    Marker Score: 36
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: 0.12
    Marker Score: 37
  • Cell Name: type EC enteroendocrine cell (CL0000577)
    Fold Change: 0.12
    Marker Score: 109
  • Cell Name: microglial cell (CL0000129)
    Fold Change: 0.11
    Marker Score: 204
  • Cell Name: adventitial cell (CL0002503)
    Fold Change: 0.11
    Marker Score: 27
  • Cell Name: GABAergic neuron (CL0000617)
    Fold Change: 0.11
    Marker Score: 455
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 0.11
    Marker Score: 37
  • Cell Name: endosteal cell (CL0002157)
    Fold Change: 0.11
    Marker Score: 37
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: 0.11
    Marker Score: 131
  • Cell Name: fibroblast of lung (CL0002553)
    Fold Change: 0.1
    Marker Score: 265
  • Cell Name: innate lymphoid cell (CL0001065)
    Fold Change: 0.1
    Marker Score: 36
  • Cell Name: hepatic stellate cell (CL0000632)
    Fold Change: 0.1
    Marker Score: 37
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: 0.1
    Marker Score: 64

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Other Information

**Key characteristics:** * LMX1A is a transcription factor belonging to the LIM homeobox family. * It is a key regulator of neuronal differentiation and survival. * It is highly expressed in neurons of the cerebral cortex, hippocampus, and cerebellum. * It is also expressed in glial cells and endothelial cells. * It is a key regulator of synaptic development and plasticity. **Pathways and functions:** * LMX1A is involved in the regulation of axon guidance by promoting the migration and survival of neurons along the developing neural tube. * It is also involved in the differentiation of other neuronal cell types, including interneurons and oligodendrocytes. * It plays a role in the development and function of the cerebellum, where it is expressed in granule cells and inhibitory interneurons. * It is involved in the development and function of the cerebral cortex, where it is expressed in neurons, astrocytes, and oligodendrocytes. * It is involved in the regulation of memory and learning. * It is a key regulator of dopaminergic neuron differentiation. * It is involved in the regulation of olfactory behavior. * It is involved in the regulation of transcription by RNA polymerase II. **Clinical significance:** * Mutations in LMX1A have been linked to a number of neurodevelopmental disorders, including autism, schizophrenia, and epilepsy. * Targeting LMX1A has been investigated as a potential therapeutic strategy for these disorders. **Additional information:** * LMX1A is a highly conserved gene, with a similar gene found in mammals, birds, and reptiles. * It is a member of the LIM homeobox family of transcription factors, which are characterized by their ability to bind to DNA and regulate gene expression. * LMX1A is a highly versatile transcription factor that can bind to a variety of DNA sequences. * It is a key regulator of neuronal differentiation and function, and its dysfunction can lead to a variety of neurodevelopmental disorders.

Genular Protein ID: 3826052226

Symbol: LMX1A_HUMAN

Name: LIM homeobox transcription factor 1-alpha

UniProtKB Accession Codes:

Q8TE12 B3KXP6 Q0VDB5 Q5VWG4 Q8TE11

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 3 CTD 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 17 Ensembl 3 GO 22 Gene3D 2 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 5 KEGG 1 MANE-Select 1 MIM 3 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PRO 1 PROSITE 4 PROSITE-ProRule 2 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 RNAct 1 RefSeq 2 SAM 1 SIGNOR 1 SMART 2 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 12062816

Title: Cloning, expression and genomic structure of human LMX1A, and variant screening in Pima Indians.

PubMed ID: 12062816

DOI: 10.1016/s0378-1119(02)00582-6

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16710414

Title: The DNA sequence and biological annotation of human chromosome 1.

PubMed ID: 16710414

DOI: 10.1038/nature04727

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 29754270

Title: Heterozygous missense variants of LMX1A lead to nonsyndromic hearing impairment and vestibular dysfunction.

PubMed ID: 29754270

DOI: 10.1007/s00439-018-1880-5

PubMed ID: 29971487

Title: A variant in LMX1A causes autosomal recessive severe-to-profound hearing impairment.

PubMed ID: 29971487

DOI: 10.1007/s00439-018-1899-7

Sequence Information:

  • Length: 382
  • Mass: 42747
  • Checksum: 55424762757FF5FD
  • Sequence:
    • MLDGLKMEEN FQSAIDTSAS FSSLLGRAVS PKSVCEGCQR VILDRFLLRL NDSFWHEQCV 
QCASCKEPLE TTCFYRDKKL YCKYDYEKLF AVKCGGCFEA IAPNEFVMRA QKSVYHLSCF 
CCCVCERQLQ KGDEFVLKEG QLLCKGDYEK ERELLSLVSP AASDSGKSDD EESLCKSAHG 
AGKGTAEEGK DHKRPKRPRT ILTTQQRRAF KASFEVSSKP CRKVRETLAA ETGLSVRVVQ 
VWFQNQRAKM KKLARRQQQQ QQDQQNTQRL SSAQTNGGGS AGMEGIMNPY TALPTPQQLL 
AIEQSVYSSD PFRQGLTPPQ MPGDHMHPYG AEPLFHDLDS DDTSLSNLGD CFLATSEAGP 
LQSRVGNPID HLYSMQNSYF TS

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. For the full schema, download it here.