Seroatlas · Human Serome Atlas

ARL6IP1

ADP-ribosylation factor-like protein 6-interacting protein 1

Also known as: AIP1, AR6P1_HUMAN, ARL6IP, ARMER, KIAA0069, SPG61

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

Protein identityUniProt · HPA

UniProt accession
Q15041
Gene
ARL6IP1
Ensembl
ENSG00000170540
Chromosome
16
Canonical length
203 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins, Predicted membrane proteins
Subcellular location
Endoplasmic reticulum
Quaternary structure
Homooligomer

OverviewNCBI Gene

This gene belongs to the ARL6ip family and encodes a transmembrane protein that is predominantly localized to intracytoplasmic membranes. It is highly expressed in early myeloid progenitor cells and thought to be involved in protein transport, membrane trafficking, or cell signaling during hematopoietic maturation. Mutations in this gene are associated with spastic paraplegia 61 (SPG61). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2015]

Canonical amino-acid sequenceUniProt

203 residues, UniProt reviewed canonical sequence.

>Q15041|ARL6IP1
     1  MAEGDNRSTN LLAAETASLE EQLQGWGEVM LMADKVLRWE RAWFPPAIMG VVSLVFLIIY
    61  YLDPSVLSGV SCFVMFLCLA DYLVPILAPR IFGSNKWTTE QQQRFHEICS NLVKTRRRAV
   121  GWWKRLFTLK EEKPKMYFMT MIVSLAAVAW VGQQVHNLLL TYLIVTSLLL LPGLNQHGII
   181  LKYIGMAKRE INKLLKQKEK KNE

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ARL6IP1 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)
0.41
Highest tissue expression
336 nTPM

Expression across tissuesHPA

Tissue

  • liver: 336 nTPM
  • cerebral cortex: 314 nTPM
  • retina: 293 nTPM
  • amygdala: 241 nTPM
  • cerebellum: 234 nTPM
  • hypothalamus: 213 nTPM

Single-cell type

  • epididymal basal cells: 354 nCPM
  • epididymal efferent duct absorptive cells: 261 nCPM
  • enteric transient amplifying cells: 192 nCPM
  • epididymal clear cells: 165 nCPM
  • epididymal principal cells: 160 nCPM
  • retinal pigment epithelial cells: 158 nCPM

Immune cell

  • total PBMC: 296 nTPM
  • T-reg: 283 nTPM
  • plasmacytoid DC: 222 nTPM
  • basophil: 212 nTPM
  • memory CD8 T-cell: 199 nTPM
  • gdT-cell: 180 nTPM

Brain region

  • cerebral cortex: 269 nTPM
  • basal ganglia: 247 nTPM
  • hypothalamus: 237 nTPM
  • thalamus: 217 nTPM
  • pons: 215 nTPM
  • cerebellum: 214 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ARL6IP1.

Disease | AllUniProt

Conditions ARL6IP1 is implicated in, by any mechanism.

  • Spastic paraplegia 61, autosomal recessive (SPG61) MIM:615685

Disease | GeneticClinVar

7 pathogenic / likely-pathogenic of 108 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Hereditary spastic paraplegia 61
  • ARL6IP1-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)
0.78
gnomAD pLI
0.02
gnomAD missense Z
1.07
DepMap mean gene effect
-0.07
DepMap dependency class
none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% 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

InteractionsUniProt · HPA

Protein binding partners of ARL6IP1 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 ARL6IP1 as an antibody target. Whether an autoantibody or antibody against ARL6IP1 could matter depends on whether native ARL6IP1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

ARL6IP1 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 ARL6IP1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/ARL6IP1. 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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