ARMC10 armadillo repeat containing 10 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ARMC10provided by HGNC
Official Full Name: armadillo repeat containing 10provided by HGNC
Primary source: HGNC:HGNC:21706
See related: Ensembl:ENSG00000170632 MIM:611864; AllianceGenome:HGNC:21706
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: SVH; PNAS112; PNAS-112; PSEC0198
Summary: This gene encodes a protein that contains an armadillo repeat and transmembrane domain. The encoded protein decreases the transcriptional activity of the tumor suppressor protein p53 through direct interaction with the DNA-binding domain of p53, and may play a role in cell growth and survival. Upregulation of this gene may play a role in hepatocellular carcinoma. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 3. [provided by RefSeq, Sep 2011]
Expression: Ubiquitous expression in thyroid (RPKM 11.8), adrenal (RPKM 9.8) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 7q22.1

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (103075140..103099759)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (104390254..104414903)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (102715587..102740206)

Chromosome 7 - NC_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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?

ARMC10 regulates mitochondrial dynamics and affects mitochondrial function via the Wnt/beta-catenin signalling pathway involved in ischaemic stroke.
Title: ARMC10 regulates mitochondrial dynamics and affects mitochondrial function via the Wnt/β-catenin signalling pathway involved in ischaemic stroke.
The oncomodulin receptor ArmC10 enables axon regeneration in mice after nerve injury and neurite outgrowth in human iPSC-derived sensory neurons.
Title: The oncomodulin receptor ArmC10 enables axon regeneration in mice after nerve injury and neurite outgrowth in human iPSC-derived sensory neurons.
Data show that the serine S45 site of armadillo repeat containing 10 (ARMC10) can be phosphorylated by AMP-activated protein kinase (AMPK) both in vitro and in vivo. .
Title: Global phosphoproteomic analysis reveals ARMC10 as an AMPK substrate that regulates mitochondrial dynamics.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
a novel gene SVH, up-regulated in hepatocellular carcinoma, was identified; four variants SVH-A, -B, -C, and -D, resulting from alternative splicing in the coding region of the SVH transcript, were observed and localized in the endoplasmic reticulum
Title: A specific splicing variant of SVH, a novel human armadillo repeat protein, is up-regulated in hepatocellular carcinomas.

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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

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

RH77969 (e-PCR)
- UniSTS:27482

RH36905 (e-PCR)
- UniSTS:87932

G20289 (e-PCR)
- UniSTS:66710

A005K35 (e-PCR)
- UniSTS:66711

G27625 (e-PCR)
- UniSTS:59368

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA binding domain binding	IDA Inferred from Direct Assay more info	PubMed
enables p53 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 negative regulation of apoptotic process	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of intrinsic apoptotic signaling pathway by p53 class mediator	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of growth rate	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum membrane	IEA Inferred from Electronic Annotation more info
located_in mitochondrial outer membrane	IEA Inferred from Electronic Annotation more info
located_in mitochondrion	HTP more info	PubMed
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: armadillo repeat-containing protein 10

Names: specific splicing variant involved in hepatocarcinogenesis; splicing variant involved in hepatocarcinogenesis protein

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_030014.1 RefSeqGene

Range

5260..29879

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001161009.3 → NP_001154481.1 armadillo repeat-containing protein 10 isoform b

See identical proteins and their annotated locations for NP_001154481.1

Status: REVIEWED

Description

Transcript Variant: This variant (B) lacks an in-frame exon in the 5' coding region compared to variant A. This results in a shorter protein (isoform b) compared to isoform a.

Source sequence(s)

AI761577, AY150851, AY150853, BM989172, BQ004061, BQ440425, BU941174

Consensus CDS

CCDS55146.1

UniProtKB/Swiss-Prot

Q8N2F6

Related

ENSP00000413619.2, ENST00000441711.6

Conserved Domains (3) summary

cd00020
Location:55 → 140

ARM; Armadillo/beta-catenin-like repeats. An approximately 40 amino acid long tandemly repeated sequence motif first identified in the Drosophila segment polarity gene armadillo; these repeats were also found in the mammalian armadillo homolog beta-catenin, ...

pfam04826
Location:52 → 302

Arm_2; Armadillo-like

sd00043
Location:56 → 84

ARM; armadillo repeat [structural motif]
NM_001161010.3 → NP_001154482.1 armadillo repeat-containing protein 10 isoform c

See identical proteins and their annotated locations for NP_001154482.1

Status: REVIEWED

Description

Transcript Variant: This variant (C) lacks an in-frame exon in the 3' coding region compared to variant A. This results in a shorter protein (isoform c) compared to isoform a.

Source sequence(s)

AI761577, AY150851, AY150852, BM989172, BQ004061, BQ440425, BU941174

Consensus CDS

CCDS55145.1

UniProtKB/Swiss-Prot

Q8N2F6

Related

ENSP00000396654.2, ENST00000428183.6

Conserved Domains (3) summary

cd00020
Location:90 → 186

ARM; Armadillo/beta-catenin-like repeats. An approximately 40 amino acid long tandemly repeated sequence motif first identified in the Drosophila segment polarity gene armadillo; these repeats were also found in the mammalian armadillo homolog beta-catenin, ...

pfam04826
Location:87 → 278

Arm_2; Armadillo-like

sd00043
Location:91 → 119

ARM; armadillo repeat [structural motif]
NM_001161011.3 → NP_001154483.1 armadillo repeat-containing protein 10 isoform e

See identical proteins and their annotated locations for NP_001154483.1

Status: REVIEWED

Description

Transcript Variant: This variant (E) lacks two in-frame exons in the coding region compared to variant A. This results in a shorter protein (isoform e) compared to isoform a.

Source sequence(s)

AI761577, AK301565, AY150851, BM989172, BQ004061, BQ440425, BU941174

Consensus CDS

CCDS55147.1

UniProtKB/Swiss-Prot

Q8N2F6

Related

ENSP00000397969.1, ENST00000425331.5

Conserved Domains (3) summary

cd00020
Location:55 → 140

ARM; Armadillo/beta-catenin-like repeats. An approximately 40 amino acid long tandemly repeated sequence motif first identified in the Drosophila segment polarity gene armadillo; these repeats were also found in the mammalian armadillo homolog beta-catenin, ...

pfam04826
Location:52 → 278

Arm_2; Armadillo-like

sd00043
Location:56 → 84

ARM; armadillo repeat [structural motif]
NM_001161012.3 → NP_001154484.1 armadillo repeat-containing protein 10 isoform d

See identical proteins and their annotated locations for NP_001154484.1

Status: REVIEWED

Description

Transcript Variant: This variant (D) lacks two in-frame exons in the coding region compared to variant A. This results in a shorter protein (isoform d) compared to isoform a.

Source sequence(s)

AI761577, AY150851, BM989172, BQ004061, BQ440425, BU941174

Consensus CDS

CCDS55148.1

UniProtKB/Swiss-Prot

Q8N2F6

Related

ENSP00000405612.1, ENST00000454559.5

Conserved Domains (3) summary

cd00020
Location:55 → 151

ARM; Armadillo/beta-catenin-like repeats. An approximately 40 amino acid long tandemly repeated sequence motif first identified in the Drosophila segment polarity gene armadillo; these repeats were also found in the mammalian armadillo homolog beta-catenin, ...

pfam04826
Location:52 → 243

Arm_2; Armadillo-like

sd00043
Location:56 → 84

ARM; armadillo repeat [structural motif]
NM_001161013.3 → NP_001154485.1 armadillo repeat-containing protein 10 isoform f

Status: REVIEWED

Description

Transcript Variant: This variant (F) lacks three in-frame exons in the coding region compared to variant A. This results in a shorter protein (isoform f) compared to isoform a.

Source sequence(s)

AF275808, AI761577, AY150851, BM989172, BQ004061, BQ440425, BU941174

Consensus CDS

CCDS55149.1

UniProtKB/TrEMBL

C9J5N7

Related

ENSP00000440463.1, ENST00000541300.5

Conserved Domains (3) summary

cd00020
Location:55 → 169

ARM; Armadillo/beta-catenin-like repeats. An approximately 40 amino acid long tandemly repeated sequence motif first identified in the Drosophila segment polarity gene armadillo; these repeats were also found in the mammalian armadillo homolog beta-catenin, ...

pfam04826
Location:52 → 219

Arm_2; Armadillo-like

sd00043
Location:56 → 84

ARM; armadillo repeat [structural motif]
NM_031905.5 → NP_114111.2 armadillo repeat-containing protein 10 isoform a

See identical proteins and their annotated locations for NP_114111.2

Status: REVIEWED

Description

Transcript Variant: This variant (A) represents the longest transcript and encodes the longest isoform (a).

Source sequence(s)

AI761577, AY150851, AY150854, BM989172, BQ004061, BQ440425, BU941174

Consensus CDS

CCDS5728.1

UniProtKB/Swiss-Prot

A8K703, B4DWJ8, F5GX65, Q75K91, Q75MG6, Q75ML8, Q8IZC1, Q8IZC2, Q8IZC3, Q8N2F6, Q9BTM6

Related

ENSP00000319412.3, ENST00000323716.8

Conserved Domains (3) summary

cd00020
Location:90 → 175

ARM; Armadillo/beta-catenin-like repeats. An approximately 40 amino acid long tandemly repeated sequence motif first identified in the Drosophila segment polarity gene armadillo; these repeats were also found in the mammalian armadillo homolog beta-catenin, ...

pfam04826
Location:87 → 337

Arm_2; Armadillo-like

sd00043
Location:91 → 119

ARM; armadillo repeat [structural motif]

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000007.14 Reference GRCh38.p14 Primary Assembly

Range

103075140..103099759

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011516601.4 → XP_011514903.1 armadillo repeat-containing protein 10 isoform X8

Conserved Domains (3) summary

cd00020
Location:63 → 148

ARM; Armadillo/beta-catenin-like repeats. An approximately 40 amino acid long tandemly repeated sequence motif first identified in the Drosophila segment polarity gene armadillo; these repeats were also found in the mammalian armadillo homolog beta-catenin, ...

pfam04826
Location:60 → 310

Arm_2; Armadillo-like

sd00043
Location:64 → 92

ARM; armadillo repeat [structural motif]
XM_047420912.1 → XP_047276868.1 armadillo repeat-containing protein 10 isoform X1
XM_047420914.1 → XP_047276870.1 armadillo repeat-containing protein 10 isoform X3
XM_047420915.1 → XP_047276871.1 armadillo repeat-containing protein 10 isoform X6
XM_047420913.1 → XP_047276869.1 armadillo repeat-containing protein 10 isoform X2
XM_047420917.1 → XP_047276873.1 armadillo repeat-containing protein 10 isoform X9
XM_017012684.3 → XP_016868173.1 armadillo repeat-containing protein 10 isoform X4

Conserved Domains (3) summary

cd00020
Location:99 → 184

ARM; Armadillo/beta-catenin-like repeats. An approximately 40 amino acid long tandemly repeated sequence motif first identified in the Drosophila segment polarity gene armadillo; these repeats were also found in the mammalian armadillo homolog beta-catenin, ...

pfam04826
Location:96 → 346

Arm_2; Armadillo-like

sd00043
Location:100 → 128

ARM; armadillo repeat [structural motif]
XM_017012685.3 → XP_016868174.1 armadillo repeat-containing protein 10 isoform X5
XM_047420916.1 → XP_047276872.1 armadillo repeat-containing protein 10 isoform X7
XM_017012688.3 → XP_016868177.1 armadillo repeat-containing protein 10 isoform X10
XM_005250628.4 → XP_005250685.1 armadillo repeat-containing protein 10 isoform X11

UniProtKB/TrEMBL

H7BXQ8

Related

ENSP00000319798.6, ENST00000323735.10

Conserved Domains (2) summary

cd00020
Location:90 → 175

ARM; Armadillo/beta-catenin-like repeats. An approximately 40 amino acid long tandemly repeated sequence motif first identified in the Drosophila segment polarity gene armadillo; these repeats were also found in the mammalian armadillo homolog beta-catenin, ...

sd00043
Location:91 → 119

ARM; armadillo repeat [structural motif]
XM_047420918.1 → XP_047276874.1 armadillo repeat-containing protein 10 isoform X10
XM_017012689.3 → XP_016868178.1 armadillo repeat-containing protein 10 isoform X12

Reference GRCh38.p14 ALT_REF_LOCI_1

Genomic

NT_187559.1 Reference GRCh38.p14 ALT_REF_LOCI_1

Range

144970..158099 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060931.1 Alternate T2T-CHM13v2.0

Range

104390254..104414903

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054359163.1 → XP_054215138.1 armadillo repeat-containing protein 10 isoform X8
XM_054359156.1 → XP_054215131.1 armadillo repeat-containing protein 10 isoform X1
XM_054359158.1 → XP_054215133.1 armadillo repeat-containing protein 10 isoform X3
XM_054359161.1 → XP_054215136.1 armadillo repeat-containing protein 10 isoform X6
XM_054359157.1 → XP_054215132.1 armadillo repeat-containing protein 10 isoform X2
XM_054359164.1 → XP_054215139.1 armadillo repeat-containing protein 10 isoform X9
XM_054359159.1 → XP_054215134.1 armadillo repeat-containing protein 10 isoform X4
XM_054359160.1 → XP_054215135.1 armadillo repeat-containing protein 10 isoform X5
XM_054359162.1 → XP_054215137.1 armadillo repeat-containing protein 10 isoform X7
XM_054359166.1 → XP_054215141.1 armadillo repeat-containing protein 10 isoform X10
XM_054359167.1 → XP_054215142.1 armadillo repeat-containing protein 10 isoform X11

UniProtKB/TrEMBL

H7BXQ8
XM_054359165.1 → XP_054215140.1 armadillo repeat-containing protein 10 isoform X10
XM_054359168.1 → XP_054215143.1 armadillo repeat-containing protein 10 isoform X12