Seroatlas · Human Serome Atlas

FHL1

Four and a half LIM domains protein 1

Also known as: bA535K18.1, FHL1_HUMAN, FHL1B, FLH1A, KYO-T, MGC111107, SLIM1, XMPMA

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q13642
Gene
FHL1
Ensembl
ENSG00000022267
Chromosome
X
Canonical length
323 aa
Protein class
Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins
Subcellular location
Plasma membrane,Cytosol

OverviewNCBI Gene

This gene encodes a member of the four-and-a-half-LIM-only protein family. Family members contain two highly conserved, tandemly arranged, zinc finger domains with four highly conserved cysteines binding a zinc atom in each zinc finger. Expression of these family members occurs in a cell- and tissue-specific mode and these proteins are involved in many cellular processes. Mutations in this gene have been found in patients with Emery-Dreifuss muscular dystrophy. Multiple alternately spliced transcript variants which encode different protein isoforms have been described.[provided by RefSeq, Nov 2009]

Canonical amino-acid sequenceUniProt

323 residues, UniProt reviewed canonical sequence.

>Q13642|FHL1
     1  MAEKFDCHYC RDPLQGKKYV QKDGHHCCLK CFDKFCANTC VECRKPIGAD SKEVHYKNRF
    61  WHDTCFRCAK CLHPLANETF VAKDNKILCN KCTTREDSPK CKGCFKAIVA GDQNVEYKGT
   121  VWHKDCFTCS NCKQVIGTGS FFPKGEDFYC VTCHETKFAK HCVKCNKAIT SGGITYQDQP
   181  WHADCFVCVT CSKKLAGQRF TAVEDQYYCV DCYKNFVAKK CAGCKNPITG KRTVSRVSHP
   241  VSKARKPPVC HGKRLPLTLF PSANLRGRHP GGERTCPSWV VVLYRKNRSL AAPRGPGLVK
   301  APVWWPMKDN PGTTTASTAK NAP

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against FHL1 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)
0.44
Highest tissue expression
10,742 nTPM

Expression across tissuesHPA

Tissue

  • skeletal muscle: 10,742 nTPM
  • tongue: 9,124 nTPM
  • blood vessel: 1,373 nTPM
  • heart muscle: 1,368 nTPM
  • adipose tissue: 880 nTPM
  • colon: 655 nTPM

Single-cell type

  • late spermatids: 1,747 nCPM
  • myonuclei: 1,299 nCPM
  • thymic myoid cells: 910 nCPM
  • smooth muscle cells: 799 nCPM
  • early spermatids: 439 nCPM
  • vascular smooth muscle cells: 434 nCPM

Immune cell

  • NK-cell: 36 nTPM
  • plasmacytoid DC: 20 nTPM
  • memory CD4 T-cell: 18 nTPM
  • MAIT T-cell: 14 nTPM
  • naive CD4 T-cell: 12 nTPM
  • total PBMC: 11 nTPM

Brain region

  • hypothalamus: 193 nTPM
  • hippocampal formation: 159 nTPM
  • midbrain: 151 nTPM
  • thalamus: 145 nTPM
  • amygdala: 137 nTPM
  • cerebral cortex: 135 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about FHL1.

Disease | AllUniProt

Conditions FHL1 is implicated in, by any mechanism.

  • Emery-Dreifuss muscular dystrophy 6, X-linked (EDMD6) MIM:300696
  • Scapuloperoneal myopathy, X-linked dominant (SPM) MIM:300695
  • Myopathy, X-linked, with postural muscle atrophy (XMPMA) MIM:300696
  • Reducing body myopathy, X-linked 1A, severe, with infantile or early childhood onset (RBMX1A) MIM:300717
  • Reducing body myopathy, X-linked 1B, with late childhood or adult onset (RBMX1B) MIM:300718
  • Uruguay faciocardiomusculoskeletal syndrome (FCMSU) MIM:300280

Disease | GeneticClinVar

101 pathogenic / likely-pathogenic of 665 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • X-linked myopathy with postural muscle atrophy
  • Myopathy, reducing body, X-linked, early-onset, severe
  • Myopathy, reducing body, X-linked, childhood-onset
  • Cardiovascular phenotype
  • X-linked scapuloperoneal muscular dystrophy

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)
0.28
gnomAD pLI
0.97
gnomAD missense Z
0.89
DepMap mean gene effect
0.09
DepMap dependency class
none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of FHL1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads FHL1 as an antibody target. Whether an autoantibody or antibody against FHL1 could matter depends on whether native FHL1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

FHL1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label FHL1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/FHL1. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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