Seroatlas · Human Serome Atlas

ARV1

Protein ARV1

Also known as: ARV1_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
Q9H2C2
Gene
ARV1
Ensembl
ENSG00000173409
Chromosome
1
Canonical length
271 aa
Protein class
Disease related genes, Human disease related genes, Potential drug targets, Predicted membrane proteins, Transporters
Subcellular location
Vesicles

OverviewNCBI Gene

this gene encodes a transmembrane protein that contains a conserved zinc ribbon motif at the N- terminus. A similar protein in mouse is thought to function in fatty acid homeostasis. Mutations in this gene are associated with early infantile epileptic encephalopathy 38. [provided by RefSeq, Nov 2016]

Canonical amino-acid sequenceUniProt

271 residues, UniProt reviewed canonical sequence.

>Q9H2C2|ARV1
     1  MGNGGRSGLQ QGKGNVDGVA ATPTAASASC QYRCIECNQE AKELYRDYNH GVLKITICKS
    61  CQKPVDKYIE YDPVIILINA ILCKAQAYRH ILFNTQINIH GKLCIFCLLC EAYLRWWQLQ
   121  DSNQNTAPDD LIRYAKEWDF YRMFAIAALE QTAYFIGIFT FLWVERPMTA KKKPNFILLL
   181  KALLLSSYGK LLLIPAVIWE HDYTSVCLKL IKVFVLTSNF QAIRVTLNIN RKLSFLAVLS
   241  GLLLESIMVY FFQSMEWDVG SDYAIFKSQD F

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ARV1 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
Other membrane
Secreted
No
Transmembrane segments
3
Mean surface accessibility (rSASA)
0.38
Highest tissue expression
32 nTPM

Expression across tissuesHPA

Tissue

  • spinal cord: 32 nTPM
  • parathyroid gland: 31 nTPM
  • testis: 29 nTPM
  • heart muscle: 28 nTPM
  • retina: 27 nTPM
  • hippocampal formation: 26 nTPM

Single-cell type

  • late primary spermatocytes: 212 nCPM
  • erythrocyte progenitors: 70 nCPM
  • adipocytes: 65 nCPM
  • early primary spermatocytes: 52 nCPM
  • esophageal basal cells: 49 nCPM
  • cytotrophoblasts: 48 nCPM

Immune cell

  • non-classical monocyte: 21 nTPM
  • memory B-cell: 18 nTPM
  • T-reg: 15 nTPM
  • plasmacytoid DC: 15 nTPM
  • MAIT T-cell: 14 nTPM
  • naive CD4 T-cell: 14 nTPM

Brain region

  • white matter: 25 nTPM
  • cerebellum: 22 nTPM
  • choroid plexus: 21 nTPM
  • spinal cord: 21 nTPM
  • hypothalamus: 21 nTPM
  • medulla oblongata: 20 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ARV1.

Disease | AllUniProt

Conditions ARV1 is implicated in, by any mechanism.

  • Developmental and epileptic encephalopathy 38 (DEE38) MIM:617020

Disease | GeneticClinVar

17 pathogenic / likely-pathogenic of 82 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

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)
1.25
gnomAD pLI
0
gnomAD missense Z
0.19
DepMap mean gene effect
0.02
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 10% 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

  • Arv1 protein
  • Arv1-like family

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of ARV1 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 ARV1 as an antibody target. Whether an autoantibody or antibody against ARV1 could matter depends on whether native ARV1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

ARV1 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 ARV1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/ARV1. 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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