XIRP1 xin actin binding repeat containing 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: XIRP1provided by HGNC
Official Full Name: xin actin binding repeat containing 1provided by HGNC
Primary source: HGNC:HGNC:14301
See related: Ensembl:ENSG00000168334 MIM:609777; AllianceGenome:HGNC:14301
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: Xin; CMYA1
Summary: The protein encoded by this gene is a striated muscle protein and belongs to the Xin actin-binding repeat-containing protein (XIRP) family. The protein functions to protect actin filaments during depolymerization. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2017]
Expression: Restricted expression toward heart (RPKM 52.8) See more
Orthologs: mouse all
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Genomic context

Location:: 3p22.2

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (39183215..39192595, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (39196207..39205587, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (39224706..39234086, complement)

Chromosome 3 - NC_000003.12 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
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?

An interaction of heart disease-associated proteins POPDC1/2 with XIRP1 in transverse tubules and intercalated discs.
Title: An interaction of heart disease-associated proteins POPDC1/2 with XIRP1 in transverse tubules and intercalated discs.
Report pathogenic XIRP1/2 rare variants in arrhythmogenic disorders such as sudden unexplained nocturnal death syndrome and Brugada syndrome.
Title: Critical Roles of Xirp Proteins in Cardiac Conduction and Their Rare Variants Identified in Sudden Unexplained Nocturnal Death Syndrome and Brugada Syndrome in Chinese Han Population.
Abnormal CMYA1 expression affects the phosphorylation of Cx43 through the protein kinase c signaling pathway, which is involved in the regulation of gap junction intercellular communication.
Title: Cardiomyopathy-Associated Gene 1-Sensitive PKC-Dependent Connexin 43 Expression and Phosphorylation in Left Ventricular Noncompaction Cardiomyopathy.
Aciculin interacts with filamin C and Xin and is essential for myofibril assembly.
Title: Aciculin interacts with filamin C and Xin and is essential for myofibril assembly, remodeling and maintenance.
The strong correlation between the degree of muscle damage and Xin immunoreactivity suggests that Xin may be a suitable outcome measure to evaluate disease progression and treatment effects in clinical trials.
Title: Xin is a marker of skeletal muscle damage severity in myopathies.
We identify the SH3 domains of nebulin and nebulette as novel ligands of proline-rich regions of Xin and XIRP2.
Title: Identification of Xin-repeat proteins as novel ligands of the SH3 domains of nebulin and nebulette and analysis of their interaction during myofibril formation and remodeling.
Data provide further support that ALS2CL, EPHA3, and CMYA1 are bona-fide tumor-suppressor genes and contribute to the tumorigenesis of HNSCC.
Title: Multiple tumor-suppressor genes on chromosome 3p contribute to head and neck squamous cell carcinoma tumorigenesis.
Data show that in myofibrillar myopathies Xin protein exhibites significant alterations in their localization.
Title: Differential involvement of sarcomeric proteins in myofibrillar myopathies: a morphological and immunohistochemical study.
Here, we identify Xin, the protein encoded by the human gene 'cardiomyopathy associated 1'(CMYA1) as filamin c binding partner at these specialized structures where the ends of myofibrils are attached to the sarcolemma
Title: Unusual splicing events result in distinct Xin isoforms that associate differentially with filamin c and Mena/VASP.
Xin and XIRP2 define a novel actin-binding motif
Title: Xin repeats define a novel actin-binding motif.

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Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Variability in the common genetic architecture of social-communication spectrum phenotypes during childhood and adolescence. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Vif	vif	HIV-1 Vif upregulates the expression of xin actin-binding repeat containing 1 (XIRP1) in Vif-expression T cells	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D3S2809E (e-PCR)
- UniSTS:150845

D3S2819E (e-PCR)
- UniSTS:150855

D3S3593 (e-PCR), detects polymorphism
- UniSTS:78479

RH92668 (e-PCR)
- UniSTS:86521

Clone Names

DKFZp451D042, DKFZp779C1255, DKFZp779C1947

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	HDA more info	PubMed
enables actin filament binding	IBA Inferred from Biological aspect of Ancestor more info
enables actin filament binding	IMP Inferred from Mutant Phenotype more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in actin filament organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in actin filament organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in myoblast differentiation involved in skeletal muscle regeneration	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of protein binding	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein localization	ISS Inferred from Sequence or Structural Similarity more info
involved_in satellite cell activation involved in skeletal muscle regeneration	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in adherens junction	IEA Inferred from Electronic Annotation more info
located_in desmosome	IEA Inferred from Electronic Annotation more info
colocalizes_with focal adhesion	IBA Inferred from Biological aspect of Ancestor more info
colocalizes_with focal adhesion	IMP Inferred from Mutant Phenotype more info	PubMed
colocalizes_with stress fiber	IBA Inferred from Biological aspect of Ancestor more info
colocalizes_with stress fiber	IMP Inferred from Mutant Phenotype more info	PubMed

General protein information

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Preferred Names: xin actin-binding repeat-containing protein 1

Names: cardiomyopathy associated 1; cardiomyopathy-associated protein 1

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_054927.1 RefSeqGene

Range

5026..14406

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001198621.4 → NP_001185550.1 xin actin-binding repeat-containing protein 1 isoform 2

See identical proteins and their annotated locations for NP_001185550.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate internal segment compared to variant 1, that causes a frameshift. The resulting isoform (2) has a shorter and distinct C-terminus compared to isoform 1.

Source sequence(s)

AC092053

Consensus CDS

CCDS56245.1

UniProtKB/Swiss-Prot

Q702N8

Related

ENSP00000379550.1, ENST00000396251.1

Conserved Domains (1) summary

pfam08043
Location:508 → 521

Xin; Xin repeat
NM_001351377.2 → NP_001338306.1 xin actin-binding repeat-containing protein 1 isoform 3

Status: REVIEWED

Source sequence(s)

AC092053

Consensus CDS

CCDS87065.1

UniProtKB/TrEMBL

B3KV77

Related

ENSP00000391645.1, ENST00000421646.1

Conserved Domains (1) summary

cl26247
Location:14 → 168

DNA_pol3_delta2; DNA polymerase III, delta subunit
NM_194293.4 → NP_919269.2 xin actin-binding repeat-containing protein 1 isoform 1

See identical proteins and their annotated locations for NP_919269.2

Status: REVIEWED

Description

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

Source sequence(s)

AC092053

Consensus CDS

CCDS2683.1

UniProtKB/Swiss-Prot

A0JP25, A4QPE2, Q68DF2, Q6ZTR3, Q702N8, Q702N9, Q8IVN7, Q8N1N3, Q8N904, Q8TCG7

Related

ENSP00000343140.3, ENST00000340369.4

Conserved Domains (1) summary

pfam08043
Location:508 → 521

Xin; Xin repeat

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_000003.12 Reference GRCh38.p14 Primary Assembly

Range

39183215..39192595 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047447588.1 → XP_047303544.1 xin actin-binding repeat-containing protein 1 isoform X2
XM_005264909.4 → XP_005264966.1 xin actin-binding repeat-containing protein 1 isoform X1

See identical proteins and their annotated locations for XP_005264966.1

UniProtKB/Swiss-Prot

A0JP25, A4QPE2, Q68DF2, Q6ZTR3, Q702N8, Q702N9, Q8IVN7, Q8N1N3, Q8N904, Q8TCG7

Conserved Domains (1) summary

pfam08043
Location:508 → 521

Xin; Xin repeat

Alternate T2T-CHM13v2.0

Genomic

NC_060927.1 Alternate T2T-CHM13v2.0

Range

39196207..39205587 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054345487.1 → XP_054201462.1 xin actin-binding repeat-containing protein 1 isoform X2
XM_054345486.1 → XP_054201461.1 xin actin-binding repeat-containing protein 1 isoform X1