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LHX1 LIM homeobox 1 [ Homo sapiens (human) ]

Gene ID: 3975, updated on 19-Mar-2019

Summary

Official Symbol
LHX1provided by HGNC
Official Full Name
LIM homeobox 1provided by HGNC
Primary source
HGNC:HGNC:6593
See related
Ensembl:ENSG00000273706 MIM:601999
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
LIM1; LIM-1
Summary
This gene encodes a member of a large protein family which contains the LIM domain, a unique cysteine-rich zinc-binding domain. The encoded protein is a transcription factor important for the development of the renal and urogenital systems. This gene is a candidate for Mayer-Rokitansky-Kuster-Hauser syndrome, a disorder characterized by anomalies in the female genital tract. [provided by RefSeq, Dec 2010]
Expression
Restricted expression toward kidney (RPKM 4.6) See more
Orthologs

Genomic context

See LHX1 in Genome Data Viewer
Location:
17q12
Exon count:
5
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 17 NC_000017.11 (36937475..36944615)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (35294772..35301915)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371750 Neighboring gene uncharacterized LOC105371751 Neighboring gene LHX1 divergent transcript Neighboring gene VISTA enhancer hs363 Neighboring gene apoptosis antagonizing transcription factor Neighboring gene microRNA 2909

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • Ectoderm Differentiation, organism-specific biosystem (from WikiPathways)
    Ectoderm Differentiation, organism-specific biosystemModel depicting ectoderm specification based on the literature and highly enriched gene expression profiles via comparison across dozens of independent induced and embryonic pluripotent stem cell lin...
  • Endoderm Differentiation, organism-specific biosystem (from WikiPathways)
    Endoderm Differentiation, organism-specific biosystemModel depicting endoderm specification based on the literature and highly enriched gene expression profiles via comparison across dozens of independent induced and embryonic pluripotent stem cell lin...
  • Neural Crest Differentiation, organism-specific biosystem (from WikiPathways)
    Neural Crest Differentiation, organism-specific biosystemGene regulatory network model of cranial neural crest cell (CNCC) development, adaped from PMID: 19575671. Most interactions in the model are proposed to regulate transcription of core factors involv...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC126723, MGC138141

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA-binding transcription factor activity ISS
Inferred from Sequence or Structural Similarity
more info
 
DNA-binding transcription factor activity, RNA polymerase II-specific IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
 
RNA polymerase II regulatory region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
transcription corepressor activity ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
S-shaped body morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
anatomical structure formation involved in morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
anatomical structure morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
animal organ morphogenesis TAS
Traceable Author Statement
more info
PubMed 
anterior/posterior axis specification ISS
Inferred from Sequence or Structural Similarity
more info
 
anterior/posterior pattern specification ISS
Inferred from Sequence or Structural Similarity
more info
 
branching involved in ureteric bud morphogenesis IEA
Inferred from Electronic Annotation
more info
 
cell-cell signaling ISS
Inferred from Sequence or Structural Similarity
more info
 
cellular response to fibroblast growth factor stimulus IEA
Inferred from Electronic Annotation
more info
 
cerebellar Purkinje cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation ISS
Inferred from Sequence or Structural Similarity
more info
 
cerebellum development ISS
Inferred from Sequence or Structural Similarity
more info
 
cervix development ISS
Inferred from Sequence or Structural Similarity
more info
 
comma-shaped body morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
dorsal spinal cord interneuron posterior axon guidance ISS
Inferred from Sequence or Structural Similarity
more info
 
dorsal/ventral pattern formation ISS
Inferred from Sequence or Structural Similarity
more info
 
ectoderm formation ISS
Inferred from Sequence or Structural Similarity
more info
 
embryonic pattern specification ISS
Inferred from Sequence or Structural Similarity
more info
 
embryonic retina morphogenesis in camera-type eye ISS
Inferred from Sequence or Structural Similarity
more info
 
embryonic viscerocranium morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
endoderm formation ISS
Inferred from Sequence or Structural Similarity
more info
 
epithelium development ISS
Inferred from Sequence or Structural Similarity
more info
 
forebrain regionalization ISS
Inferred from Sequence or Structural Similarity
more info
 
gastrulation with mouth forming second ISS
Inferred from Sequence or Structural Similarity
more info
 
head development ISS
Inferred from Sequence or Structural Similarity
more info
 
horizontal cell localization IEA
Inferred from Electronic Annotation
more info
 
kidney development ISS
Inferred from Sequence or Structural Similarity
more info
 
lateral motor column neuron migration ISS
Inferred from Sequence or Structural Similarity
more info
 
mesonephric duct development IEA
Inferred from Electronic Annotation
more info
 
metanephric S-shaped body morphogenesis IEA
Inferred from Electronic Annotation
more info
 
metanephric comma-shaped body morphogenesis IEA
Inferred from Electronic Annotation
more info
 
metanephric glomerulus development IEA
Inferred from Electronic Annotation
more info
 
metanephric part of ureteric bud development IEA
Inferred from Electronic Annotation
more info
 
metanephric renal vesicle morphogenesis IEA
Inferred from Electronic Annotation
more info
 
motor neuron axon guidance ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of transcription, DNA-templated ISS
Inferred from Sequence or Structural Similarity
more info
 
nephric duct elongation IEA
Inferred from Electronic Annotation
more info
 
nephric duct morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
nervous system development TAS
Traceable Author Statement
more info
PubMed 
neuron differentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
oviduct development ISS
Inferred from Sequence or Structural Similarity
more info
 
oviduct epithelium development ISS
Inferred from Sequence or Structural Similarity
more info
 
paramesonephric duct development ISS
Inferred from Sequence or Structural Similarity
more info
 
pattern specification process ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of anterior head development ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of branching involved in ureteric bud morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of embryonic development ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of gastrulation ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of nephron tubule epithelial cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of transcription, DNA-templated ISS
Inferred from Sequence or Structural Similarity
more info
 
post-embryonic development ISS
Inferred from Sequence or Structural Similarity
more info
 
primitive streak formation ISS
Inferred from Sequence or Structural Similarity
more info
 
pronephros development IEA
Inferred from Electronic Annotation
more info
 
regulation of gene expression ISS
Inferred from Sequence or Structural Similarity
more info
 
renal vesicle morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
retina layer formation ISS
Inferred from Sequence or Structural Similarity
more info
 
somite rostral/caudal axis specification IEA
Inferred from Electronic Annotation
more info
 
spinal cord association neuron differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
telencephalon development IEA
Inferred from Electronic Annotation
more info
 
transcription by RNA polymerase II ISS
Inferred from Sequence or Structural Similarity
more info
 
ureter morphogenesis IEA
Inferred from Electronic Annotation
more info
 
ureteric bud development ISS
Inferred from Sequence or Structural Similarity
more info
 
urogenital system development ISS
Inferred from Sequence or Structural Similarity
more info
 
uterine epithelium development ISS
Inferred from Sequence or Structural Similarity
more info
 
uterus development ISS
Inferred from Sequence or Structural Similarity
more info
 
vagina development ISS
Inferred from Sequence or Structural Similarity
more info
 
ventral spinal cord development IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus ISS
Inferred from Sequence or Structural Similarity
more info
 
protein-containing complex ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
LIM/homeobox protein Lhx1
Names
LIM homeobox protein 1
homeobox protein Lim-1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_005568.4NP_005559.2  LIM/homeobox protein Lhx1

    See identical proteins and their annotated locations for NP_005559.2

    Status: REVIEWED

    Source sequence(s)
    AC243773, BC020470, BC101674
    Consensus CDS
    CCDS11316.1
    UniProtKB/Swiss-Prot
    P48742
    UniProtKB/TrEMBL
    Q58F18
    Related
    ENSP00000477829.1, ENST00000614239.1
    Conserved Domains (4) summary
    cd09367
    Location:455
    LIM1_Lhx1_Lhx5; The first LIM domain of Lhx1 (also known as Lim1) and Lhx5
    cd09375
    Location:63118
    LIM2_Lhx1_Lhx5; The second LIM domain of Lhx1 (also known as Lim1) and Lhx5
    cl14561
    Location:291382
    An_peroxidase_like; Animal heme peroxidases and related proteins
    pfam00046
    Location:183236
    Homeobox; Homeobox domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p12 Primary Assembly

    Range
    36937475..36944615
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p12 ALT_REF_LOCI_1

Genomic

  1. NT_187614.1 Reference GRCh38.p12 ALT_REF_LOCI_1

    Range
    1173837..1180980
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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