Seroatlas · Human Serome Atlas

CRLF1

Cytokine receptor-like factor 1

Also known as: CISS, CISS1, CLF, CLF-1, CRLF1_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: O75462
Gene: CRLF1
Ensembl: ENSG00000006016
Chromosome: 19
Canonical length: 422 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins, Predicted secreted proteins
Secretome location: Secreted in other tissues

OverviewNCBI Gene

This gene encodes a member of the cytokine type I receptor family. The protein forms a secreted complex with cardiotrophin-like cytokine factor 1 and acts on cells expressing ciliary neurotrophic factor receptors. The complex can promote survival of neuronal cells. Mutations in this gene result in Crisponi syndrome and cold-induced sweating syndrome. [provided by RefSeq, Oct 2009]

Canonical amino-acid sequenceUniProt

422 residues, UniProt reviewed canonical sequence.

>O75462|CRLF1
     1  MPAGRRGPAA QSARRPPPLL PLLLLLCVLG APRAGSGAHT AVISPQDPTL LIGSSLLATC
    61  SVHGDPPGAT AEGLYWTLNG RRLPPELSRV LNASTLALAL ANLNGSRQRS GDNLVCHARD
   121  GSILAGSCLY VGLPPEKPVN ISCWSKNMKD LTCRWTPGAH GETFLHTNYS LKYKLRWYGQ
   181  DNTCEEYHTV GPHSCHIPKD LALFTPYEIW VEATNRLGSA RSDVLTLDIL DVVTTDPPPD
   241  VHVSRVGGLE DQLSVRWVSP PALKDFLFQA KYQIRYRVED SVDWKVVDDV SNQTSCRLAG
   301  LKPGTVYFVQ VRCNPFGIYG SKKAGIWSEW SHPTAASTPR SERPGPGGGA CEPRGGEPSS
   361  GPVRRELKQF LGWLKKHAYC SNLSFRLYDQ WRAWMQKSHK TRNQDEGILP SGRRGTARGP
   421  AR

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CRLF1 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: Secreted
Secreted: Yes
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.39
Highest tissue expression: 231 nTPM

Expression across tissuesHPA

Tissue

blood vessel: 231 nTPM
heart muscle: 65 nTPM
basal ganglia: 45 nTPM
thyroid gland: 37 nTPM
cerebral cortex: 31 nTPM
adipose tissue: 29 nTPM

Single-cell type

cardiomyocytes: 310 nCPM
epicardial cells: 148 nCPM
fibroblasts: 138 nCPM
vascular smooth muscle cells: 125 nCPM
ependymal cells: 82 nCPM
ocular epithelial cells: 67 nCPM

Immune cell

basophil: 0 nTPM
classical monocyte: 0 nTPM
eosinophil: 0 nTPM
gdT-cell: 0 nTPM
intermediate monocyte: 0 nTPM
MAIT T-cell: 0 nTPM

Brain region

cerebral cortex: 54 nTPM
midbrain: 45 nTPM
medulla oblongata: 37 nTPM
white matter: 36 nTPM
basal ganglia: 35 nTPM
cerebellum: 31 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CRLF1.

Disease | AllUniProt

Conditions CRLF1 is implicated in, by any mechanism.

Crisponi/Cold-induced sweating syndrome 1 (CISS1) MIM:272430

Disease | GeneticClinVar

33 pathogenic / likely-pathogenic of 245 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Cold-induced sweating syndrome 1
Cold-induced sweating syndrome
Cone-rod dystrophy 12
Inborn genetic diseases
CRLF1-related disorder

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): 0.91
gnomAD pLI: 0
gnomAD missense Z: 0.47
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

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads CRLF1 as an antibody target. Whether an autoantibody or antibody against CRLF1 could matter depends on whether native CRLF1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

CRLF1 is annotated as secreted, so native CRLF1 circulates and is directly accessible to antibodies. Secreted and cell-surface proteins are the autoantibody targets most likely to act like drugs, blocking or depleting the native protein.

Annotation status

The present source text does not explicitly label CRLF1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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