LHX1

Protein identityUniProt · HPA

UniProt accession

P48742

Gene

LHX1

Ensembl

ENSG00000273706

Chromosome

17

Canonical length

406 aa

Protein class

Cancer-related genes, Predicted intracellular proteins, Transcription factors

Subcellular location

Nucleoplasm,Nuclear membrane,Golgi apparatus

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

406 residues, UniProt reviewed canonical sequence.

>P48742|LHX1
     1  MVHCAGCKRP ILDRFLLNVL DRAWHVKCVQ CCECKCNLTE KCFSREGKLY CKNDFFRCFG
    61  TKCAGCAQGI SPSDLVRRAR SKVFHLNCFT CMMCNKQLST GEELYIIDEN KFVCKEDYLS
   121  NSSVAKENSL HSATTGSDPS LSPDSQDPSQ DDAKDSESAN VSDKEAGSNE NDDQNLGAKR
   181  RGPRTTIKAK QLETLKAAFA ATPKPTRHIR EQLAQETGLN MRVIQVWFQN RRSKERRMKQ
   241  LSALGARRHA FFRSPRRMRP LVDRLEPGEL IPNGPFSFYG DYQSEYYGPG GNYDFFPQGP
   301  PSSQAQTPVD LPFVPSSGPS GTPLGGLEHP LPGHHPSSEA QRFTDILAHP PGDSPSPEPS
   361  LPGPLHSMSA EVFGPSPPFS SLSVNGGASY GNHLSHPPEM NEAAVW

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against LHX1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.56

Highest tissue expression

32 nTPM

Expression across tissuesHPA

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.74

gnomAD pLI

0.03

gnomAD missense Z

1.92

DepMap mean gene effect

-0.11

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• anatomical structure formation involved in morphogenesis
• anatomical structure morphogenesis
• animal organ morphogenesis
• anterior/posterior axis specification
• anterior/posterior pattern specification
• branching involved in ureteric bud morphogenesis
• cell-cell signaling
• cellular response to fibroblast growth factor stimulus
• cerebellar Purkinje cell differentiation
• cerebellar Purkinje cell-granule cell precursor cell signaling
• cerebellum development
• cervix development
• comma-shaped body morphogenesis
• dorsal/ventral pattern formation
• embryonic pattern specification
• embryonic retina morphogenesis in camera-type eye
• embryonic viscerocranium morphogenesis
• endoderm formation
• epithelium development
• forebrain regionalization
• gastrulation with mouth forming second
• head development
• kidney development
• lateral motor column neuron migration
• mesendoderm development
• mesonephric duct development
• metanephric comma-shaped body morphogenesis
• metanephric glomerulus development
• metanephric part of ureteric bud development
• metanephric S-shaped body morphogenesis
• motor neuron axon guidance
• negative regulation of DNA-templated transcription
• nephric duct morphogenesis
• nervous system development
• neuron differentiation
• oviduct development
• oviduct epithelium development
• paramesonephric duct development
• pattern specification process
• positive regulation of anterior head development
• positive regulation of branching involved in ureteric bud morphogenesis
• positive regulation of DNA-templated transcription
• positive regulation of embryonic development
• positive regulation of gastrulation
• positive regulation of nephron tubule epithelial cell differentiation
• post-embryonic development
• primitive streak formation
• pronephros development
• regulation of gene expression
• regulation of transcription by RNA polymerase II
• retina layer formation
• S-shaped body morphogenesis
• somite rostral/caudal axis specification
• spinal cord association neuron differentiation
• telencephalon development
• transcription by RNA polymerase II
• ureter morphogenesis
• ureteric bud development
• urogenital system development
• uterine epithelium development
• uterus development
• vagina development
• ventral spinal cord development
• dorsal spinal cord interneuron posterior axon guidance
• ectoderm formation
• metanephric renal vesicle morphogenesis
• nephric duct elongation
• renal vesicle morphogenesis

Molecular functions

• cis-regulatory region sequence-specific DNA binding
• DNA-binding transcription factor activity
• DNA-binding transcription factor activity, RNA polymerase II-specific
• RNA polymerase II transcription regulatory region sequence-specific DNA binding
• sequence-specific double-stranded DNA binding
• zinc ion binding

Cellular components

• chromatin
• nucleus
• protein-containing complex
• transcription regulator complex

Protein domainsUniProt · Pfam · InterPro

• Homeodomain
• Zinc finger, LIM-type
• Homedomain-like superfamily
• Homeobox, conserved site
• Lhx1/5, LIM domain 1
• Lhx1/5, LIM domain 2
• LIM/homeobox transcription factors
• Homeodomain
• LIM domain

KeywordsUniProt

• Developmental protein
• Differentiation
• DNA-binding
• Homeobox
• LIM domain
• Metal-binding
• Neurogenesis
• Nucleus
• Phosphoprotein
• Repeat
• Transcription
• Transcription regulation
• Zinc

InteractionsUniProt · HPA

Protein binding partners of LHX1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• LDB1