Seroatlas · Human Serome Atlas

CLHC1

Clathrin heavy chain linker domain-containing protein 1

Also known as: C2orf63, CLHC1_HUMAN, FLJ31438

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

Protein identityUniProt · HPA

UniProt accession: Q8NHS4
Gene: CLHC1
Ensembl: ENSG00000162994
Chromosome: 2
Canonical length: 586 aa
Protein class: Predicted intracellular proteins
Subcellular location: Nucleoli fibrillar center,Centrosome

OverviewNCBI Gene

No narrative summary is available for CLHC1 in this catalog release; identity and structured annotations are shown without generated factual claims.

Canonical amino-acid sequenceUniProt

586 residues, UniProt reviewed canonical sequence.

>Q8NHS4|CLHC1
     1  MSVHQIRKHA VLPPIICRSD KEFLESVQRY IITETERLGC SEEGPADEYY IIYRNVFDKV
    61  IEHITAYKSI LTSIKKEYDA FIETIKKDRR TTFCLHGKLK GLAAEPTALV YYRKRTIQLE
   121  AKMRIIESNS SKIQSQIDHI KQCRAEYDTK EVKYCTFSKD PSKPIPGMTL QESMNLDALT
   181  KYMKHLEDKY AEIKQAMLIK YVPAQRKADL DEEMIVLLKR RDVAENLNKK LQFCHQRLQI
   241  ISQALSSWVK SDMSSPFQDF VEQIQKTKYL QGDQGIVEEL MEDDPRRAKE AEIMLHYIER
   301  FNELISLGEY EKAACYAANS PRRILRNIGT MNTFKAVGKI RGKPLPLLLF FEALFITSHA
   361  FPCPVDAALT LEGIKCGLSE KRLDLVTNWV TQERLTFSEE AGDVICDYGE QDTYNKAKCL
   421  ALAQIVYSEC GLHKKAILCL CKQGQTHRVM EYIQQLKDFT TDDLLQLLMS CPQVELIQCL
   481  TKELNEKQPS LSFGLAILHL FSADMKKVGI KLLQEINKGG IDAVESLMIN DSFCSIEKWQ
   541  EVANICSQNG FDKLSNDITS ILRSQAAVTE ISEEDDAVNL MEHVFW

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CLHC1 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: Unknown
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.38
Highest tissue expression: 14 nTPM

Expression across tissuesHPA

Tissue

testis: 14 nTPM
retina: 7.1 nTPM
pituitary gland: 6.7 nTPM
parathyroid gland: 5.1 nTPM
fallopian tube: 4.9 nTPM
prostate: 4.9 nTPM

Single-cell type

ependymal cells: 230 nCPM
choroid plexus epithelial cells: 190 nCPM
respiratory ciliated cells: 138 nCPM
late primary spermatocytes: 85 nCPM
lactotrophs: 83 nCPM
fallopian tube ciliated cells: 73 nCPM

Immune cell

eosinophil: 1.3 nTPM
NK-cell: 0.9 nTPM
plasmacytoid DC: 0.8 nTPM
intermediate monocyte: 0.6 nTPM
naive CD4 T-cell: 0.6 nTPM
memory CD4 T-cell: 0.5 nTPM

Brain region

choroid plexus: 31 nTPM
cerebellum: 20 nTPM
midbrain: 18 nTPM
medulla oblongata: 17 nTPM
white matter: 15 nTPM
cerebral cortex: 14 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CLHC1.

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 116 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Marked Hypotonia
Waddling gait

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): 1.36
gnomAD pLI: 0
gnomAD missense Z: -0.95
DepMap mean gene effect: -0.13
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

Protein domainsUniProt · Pfam · InterPro

Armadillo-type fold
Translin-associated factor X-interacting protein 1, N-terminal
Clathrin-H-link
Translin-associated factor X-interacting N-terminus
Clathrin, heavy chain, linker
Clathrin heavy chain linker domain-containing protein 1

KeywordsUniProt

Coiled coil

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads CLHC1 as an antibody target. Whether an autoantibody or antibody against CLHC1 could matter depends on whether native CLHC1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

CLHC1 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 CLHC1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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