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LHX1 LIM homeobox 1 [ Homo sapiens (human) ]

Gene ID: 3975, updated on 5-Sep-2021

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
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Genomic context

See LHX1 in Genome Data Viewer
Location:
17q12
Exon count:
5
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (36937475..36944612)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (35294772..35301912)

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 Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC126723, MGC138141

Gene Ontology Provided by GOA

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

General protein information

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

NCBI Reference Sequences (RefSeq)

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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_005568.5NP_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 Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    36937475..36944612
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_1

Genomic

  1. NT_187614.1 Reference GRCh38.p13 ALT_REF_LOCI_1

    Range
    1173837..1180977
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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