Seroatlas · Human Serome Atlas

HYCC1

Hyccin

Also known as: DRCTNNB1A, FAM126A, HCC, HYCCI_HUMAN, hyccin

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

Protein identityUniProt · HPA

UniProt accession: Q9BYI3
Gene: HYCC1
Ensembl: ENSG00000122591
Chromosome: 7
Canonical length: 521 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location: Plasma membrane,Cytosol

OverviewNCBI Gene

The protein encoded by this gene may play a part in the beta-catenin/Lef signaling pathway. Expression of this gene is down-regulated by beta-catenin. Defects in this gene are a cause of hypomyelination with congenital cataract (HCC). [provided by RefSeq, Oct 2008]

Canonical amino-acid sequenceUniProt

521 residues, UniProt reviewed canonical sequence.

>Q9BYI3|HYCC1
     1  MFTSEKGVVE EWLSEFKTLP ETSLPNYATN LKDKSSLVSS LYKVIQEPQS ELLEPVCHQL
    61  FEFYRSGEEQ LLQFTLQFLP ELIWCYLAVS ASRNVHSSGC IEALLLGVYN LEIVDKQGHT
   121  KVLSFTIPSL SKPSVYHEPS SIGSMALTES ALSQHGLSKV VYSGPHPQRE MLTAQNRFEV
   181  LTFLLLCYNA ALTYMPSVSL QSLCQICSRI CVCGYPRQHV RKYKGISSRI PVSSGFMVQM
   241  LTGIYFAFYN GEWDLAQKAL DDIIYRAQLE LYPEPLLVAN AIKASLPHGP MKSNKEGTRC
   301  IQVEITPTSS RISRNAVTSM SIRGHRWKRH GNTELTGQEE LMEISEVDEG FYSRAASSTS
   361  QSGLSNSSHN CSNKPSIGKN HRRSGGSKTG GKEKETTGES CKDHFARKQT QRAQSENLEL
   421  LSLKRLTLTT SQSLPKPSSH GLAKTAATVF SKSFEQVSGV TVPHNPSSAV GCGAGTDANR
   481  FSACSLQEEK LIYVSERTEL PMKHQSGQQR PPSISITLST D

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against HYCC1 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: Cell surface
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.48
Highest tissue expression: 21 nTPM

Expression across tissuesHPA

Tissue

skeletal muscle: 21 nTPM
tongue: 14 nTPM
placenta: 14 nTPM
blood vessel: 12 nTPM
breast: 11 nTPM
esophagus: 11 nTPM

Single-cell type

pituicytes/fscs: 571 nCPM
retinal pigment epithelial cells: 264 nCPM
melanocytes: 257 nCPM
choroid plexus epithelial cells: 253 nCPM
esophageal apical cells: 249 nCPM
schwann cells: 248 nCPM

Immune cell

eosinophil: 14 nTPM
non-classical monocyte: 9.9 nTPM
intermediate monocyte: 7.9 nTPM
naive B-cell: 7.4 nTPM
memory B-cell: 6.5 nTPM
basophil: 4.8 nTPM

Brain region

hippocampal formation: 25 nTPM
choroid plexus: 16 nTPM
white matter: 16 nTPM
basal ganglia: 14 nTPM
hypothalamus: 13 nTPM
thalamus: 12 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about HYCC1.

Disease | AllUniProt

Conditions HYCC1 is implicated in, by any mechanism.

Leukodystrophy, hypomyelinating, 5 (HLD5) MIM:610532

Disease | GeneticClinVar

21 pathogenic / likely-pathogenic of 396 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Hypomyelination and Congenital Cataract
Tooth agenesis, selective, X-linked, 1

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): 0.49
gnomAD pLI: 0.12
DepMap mean gene effect: -0.02
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 8% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of HYCC1 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 HYCC1 as an antibody target. Whether an autoantibody or antibody against HYCC1 could matter depends on whether native HYCC1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

HYCC1 is annotated at the cell surface, where native HYCC1 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label HYCC1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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