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

Gene ID: 165904, updated on 5-Aug-2022

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
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Genomic context

See XIRP1 in Genome Data Viewer
Location:
3p22.2
Exon count:
3
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (39183215..39192595, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (39196207..39205587, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (39224706..39234086, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101928263 Neighboring gene Sharpr-MPRA regulatory region 1375 Neighboring gene uncharacterized LOC105377035 Neighboring gene uncharacterized LOC124909366 Neighboring gene DSTN pseudogene 4

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

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

HIV-1 interactions

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

Go to the HIV-1, Human Interaction Database

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • DKFZp451D042, DKFZp779C1255, DKFZp779C1947

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables RNA binding HDA PubMed 
enables actin filament binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
involved_in actin filament organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of protein binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
colocalizes_with focal adhesion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
colocalizes_with stress fiber IMP
Inferred from Mutant Phenotype
more info
PubMed 

General protein information

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

  1. NG_054927.1 RefSeqGene

    Range
    5026..14406
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001198621.4NP_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:508521
    Xin; Xin repeat
  2. NM_001351377.2NP_001338306.1  xin actin-binding repeat-containing protein 1 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC092053
    Consensus CDS
    CCDS87065.1
    Related
    ENSP00000391645.1, ENST00000421646.1
    Conserved Domains (1) summary
    cl26247
    Location:14168
    DNA_pol3_delta2; DNA polymerase III, delta subunit
  3. NM_194293.4NP_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
    Q702N8, Q8TCG7
    Related
    ENSP00000343140.3, ENST00000340369.4
    Conserved Domains (1) summary
    pfam08043
    Location:508521
    Xin; Xin repeat

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    39183215..39192595 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047447588.1XP_047303544.1  xin actin-binding repeat-containing protein 1 isoform X2

  2. XM_005264909.4XP_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
    Q702N8, Q8TCG7
    Conserved Domains (1) summary
    pfam08043
    Location:508521
    Xin; Xin repeat

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    39196207..39205587 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)