Seroatlas · Human Serome Atlas

ARVCF

Splicing regulator ARVCF

Also known as: ARVC_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: O00192
Gene: ARVCF
Ensembl: ENSG00000099889
Chromosome: 22
Canonical length: 962 aa
Protein class: Predicted intracellular proteins
Subcellular location: Plasma membrane,Cell Junctions

OverviewNCBI Gene

Armadillo Repeat gene deleted in Velo-Cardio-Facial syndrome (ARVCF) is a member of the catenin family. This family plays an important role in the formation of adherens junction complexes, which are thought to facilitate communication between the inside and outside environments of a cell. The ARVCF gene was isolated in the search for the genetic defect responsible for the autosomal dominant Velo-Cardio-Facial syndrome (VCFS), a relatively common human disorder with phenotypic features including cleft palate, conotruncal heart defects and facial dysmorphology. The ARVCF gene encodes a protein containing two motifs, a coiled coil domain in the N-terminus and a 10 armadillo repeat sequence in the midregion. Since these sequences can facilitate protein-protein interactions ARVCF is thought to function in a protein complex. In addition, ARVCF contains a predicted nuclear-targeting sequence suggesting that it may have a function as a nuclear protein. [provided by RefSeq, Jun 2010]

Canonical amino-acid sequenceUniProt

962 residues, UniProt reviewed canonical sequence.

>O00192|ARVCF
     1  MEDCNVHSAA SILASVKEQE ARFERLTRAL EQERRHVALQ LERAQQPGMV SGGMGSGQPL
    61  PMAWQQLVLQ EQSPGSQASL ATMPEAPDVL EETVTVEEDP GTPTSHVSIV TSEDGTTRRT
   121  ETKVTKTVKT VTTRTVRQVP VGPDGLPLLD GGPPLGPFAD GALDRHFLLR GGGPVATLSR
   181  AYLSSGGGFP EGPEPRDSPS YGSLSRGLGM RPPRAGPLGP GPGDGCFTLP GHREAFPVGP
   241  EPGPPGGRSL PERFQAEPYG LEDDTRSLAA DDEGGPELEP DYGTATRRRP ECGRGLHTRA
   301  YEDTADDGGE LADERPAFPM VTAPLAQPER GSMGSLDRLV RRSPSVDSAR KEPRWRDPEL
   361  PEVLAMLRHP VDPVKANAAA YLQHLCFENE GVKRRVRQLR GLPLLVALLD HPRAEVRRRA
   421  CGALRNLSYG RDTDNKAAIR DCGGVPALVR LLRAARDNEV RELVTGTLWN LSSYEPLKMV
   481  IIDHGLQTLT HEVIVPHSGW EREPNEDSKP RDAEWTTVFK NTSGCLRNVS SDGAEARRRL
   541  RECEGLVDAL LHALQSAVGR KDTDNKSVEN CVCIMRNLSY HVHKEVPGAD RYQEAEPGPL
   601  GSAVGSQRRR RDDASCFGGK KAKEEWFHQG KKDGEMDRNF DTLDLPKRTE AAKGFELLYQ
   661  PEVVRLYLSL LTESRNFNTL EAAAGALQNL SAGNWMWATY IRATVRKERG LPVLVELLQS
   721  ETDKVVRAVA IALRNLSLDR RNKDLIGSYA MAELVRNVRN AQAPPRPGAC LEEDTVVAVL
   781  NTIHEIVSDS LDNARSLLQA RGVPALVALV ASSQSVREAK AASHVLQTVW SYKELRGTLQ
   841  KDGWTKARFQ SAAATAKGPK GALSPGGFDD STLPLVDKSL EGEKTGSRDV IPMDALGPDG
   901  YSTVDRRERR PRGASSAGEA SEKEPLKLDP SRKAPPPGPS RPAVRLVDAV GDAKPQPVDS
   961  WV

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ARVCF 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): 0.47
Highest tissue expression: 53 nTPM

Expression across tissuesHPA

Tissue

cerebellum: 53 nTPM
blood vessel: 16 nTPM
thyroid gland: 15 nTPM
spleen: 10 nTPM
pituitary gland: 8.7 nTPM
hypothalamus: 8.2 nTPM

Single-cell type

epididymal principal cells: 127 nCPM
astrocytes: 37 nCPM
ependymal cells: 27 nCPM
pancreatic islet cells: 25 nCPM
bergmann glia: 23 nCPM
brain excitatory neurons: 22 nCPM

Immune cell

naive CD8 T-cell: 0.1 nTPM
basophil: 0 nTPM
classical monocyte: 0 nTPM
eosinophil: 0 nTPM
gdT-cell: 0 nTPM
intermediate monocyte: 0 nTPM

Brain region

cerebellum: 44 nTPM
thalamus: 23 nTPM
hypothalamus: 21 nTPM
medulla oblongata: 21 nTPM
amygdala: 20 nTPM
pons: 18 nTPM

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): 0.82
gnomAD pLI: 0
gnomAD missense Z: -0.27
DepMap mean gene effect: 0.17
DepMap dependency class: none

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).

OntologyGO

Biological processes

Molecular functions

cadherin binding

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

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

CCDC85B

Antibody and autoantibody relevanceSeroatlas analysis

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

ARVCF is annotated at the cell surface, where native ARVCF 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 ARVCF as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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