ARL6IP1 ADP ribosylation factor like GTPase 6 interacting protein 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ARL6IP1provided by HGNC
Official Full Name: ADP ribosylation factor like GTPase 6 interacting protein 1provided by HGNC
Primary source: HGNC:HGNC:697
See related: Ensembl:ENSG00000170540 MIM:607669; AllianceGenome:HGNC:697
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: AIP1; ARMER; SPG61; ARL6IP
Summary: 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]
Expression: Ubiquitous expression in brain (RPKM 151.5), adrenal (RPKM 96.4) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 16p12.3

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (18791667..18801549, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (18728102..18737985, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (18802989..18812871, complement)

Chromosome 16 - NC_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Mutations in ARL6IP1, which encodes a tetraspan membrane protein localized to the endoplasmic reticulum (ER), have been recently described in a large family with a complicated form of hereditary spastic paraplegia (HSP). Phenotype associated with ARL6IP1 variants may be broader and more acute than so far reported and identifies fatal HSP as the severe end of the phenotypic spectrum of ARL6IP1 variants.
Title: Truncating ARL6IP1 variant as the genetic cause of fatal complicated hereditary spastic paraplegia.
ARL6ip1 is a three-spanning transmembrane protein with a conophylline binding pocket.
Title: Determination of topological structure of ARL6ip1 in cells: identification of the essential binding region of ARL6ip1 for conophylline.
Down-regulation of ARL6IP1 expression arrested CaSki cell cycling at the G0/G1 phase and mitigated CaSki cell migration, determined by wound healing assays.
Title: Inhibition of ADP-ribosylation factor-like 6 interacting protein 1 suppresses proliferation and reduces tumor cell invasion in CaSki human cervical cancer cells.
ARL6IP1 may play a key role in cisplatin-induced apoptosis in CaSki cervical cancer cells by regulating the expression of apoptosis-associated proteins.
Title: ARL6IP1 mediates cisplatin-induced apoptosis in CaSki cervical cancer cells.
novel endoplasmic reticulum integral membrane protein which protects cells by inhibiting caspase-9 activity and reveal a possible role for ARMER in cell survival
Title: ARMER, apoptotic regulator in the membrane of the endoplasmic reticulum, a novel inhibitor of apoptosis.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Hereditary spastic paraplegia 61 MedGen: C3810294 OMIM: 615685 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH25299 (e-PCR)
- UniSTS:88870

NoName (e-PCR)
- UniSTS:31823

D16S3202 (e-PCR)
- UniSTS:16634

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in cotranslational protein targeting to membrane	IBA Inferred from Biological aspect of Ancestor more info
involved_in endoplasmic reticulum tubular network formation	IDA Inferred from Direct Assay more info	PubMed
involved_in endoplasmic reticulum tubular network membrane organization	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of apoptotic process	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of cysteine-type endopeptidase activity involved in apoptotic process	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of L-glutamate import across plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of endoplasmic reticulum tubular network organization	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
part_of Sec61 translocon complex	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IEA Inferred from Electronic Annotation more info
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info
located_in endoplasmic reticulum membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in endoplasmic reticulum tubular network	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	HDA more info	PubMed
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: ADP-ribosylation factor-like protein 6-interacting protein 1

Names: ADP-ribosylation factor GTPase 6 interacting protein 1; ADP-ribosylation factor-like 6 interacting protein 1; ARL-6-interacting protein 1; aip-1; apoptotic regulator in the membrane of the endoplasmic reticulum

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_042860.1 RefSeqGene

Range

5130..15010

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001313858.1 → NP_001300787.1 ADP-ribosylation factor-like protein 6-interacting protein 1 isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) contains an alternate 5' terminal exon, which results in translation initiation from an in-frame downstream start codon compared to variant 1. The encoded isoform (2) has a shorter N-terminus compared to isoform 1.

Source sequence(s)

AI354532, AK301636, BC010281

Consensus CDS

CCDS81951.1

UniProtKB/TrEMBL

B7Z6R9

Related

ENSP00000440048.2, ENST00000546206.6
NM_015161.3 → NP_055976.1 ADP-ribosylation factor-like protein 6-interacting protein 1 isoform 1

See identical proteins and their annotated locations for NP_055976.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longer isoform (1).

Source sequence(s)

BC010281, DC406882

Consensus CDS

CCDS10572.1

UniProtKB/Swiss-Prot

B7Z6S5, B7Z791, F5GXP4, Q15041

UniProtKB/TrEMBL

A8K522

Related

ENSP00000306788.7, ENST00000304414.12