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C10orf71 chromosome 10 open reading frame 71 [ Homo sapiens (human) ]

Gene ID: 118461, updated on 5-Mar-2024

Summary

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Official Symbol
C10orf71provided by HGNC
Official Full Name
chromosome 10 open reading frame 71provided by HGNC
Primary source
HGNC:HGNC:26973
See related
Ensembl:ENSG00000177354 AllianceGenome:HGNC:26973
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CEFIP
Summary
Predicted to be involved in positive regulation of calcineurin-NFAT signaling cascade. Predicted to be located in Z disc. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Restricted expression toward heart (RPKM 13.9) See more
Orthologs
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Genomic context

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Location:
10q11.23
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (49297050..49327492)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (50145795..50176288)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (50507215..50535537)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene FAM170B antisense RNA 1 Neighboring gene family with sequence similarity 170 member B Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:50378847-50379346 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:50382921-50383422 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:50383423-50383922 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3346 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3347 Neighboring gene transmembrane protein 273 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3348 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3349 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr10:50451046-50451717 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:50462512-50463040 Neighboring gene C10orf71 antisense RNA 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:50505091-50505268 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2361 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:50543527-50544726 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:50587592-50588092 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2362 Neighboring gene dorsal root ganglia homeobox Neighboring gene heat shock protein family D (Hsp60) member 1 pseudogene 17 Neighboring gene ERCC excision repair 6, chromatin remodeling factor

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. Autosomal recessive congenital cataract is associated with a novel 4-bp splicing deletion mutation in a novel C10orf71 human gene. Chograni M, et al. Hum Genomics, 2023 May 13. PMID 37179318, Free PMC Article
  2. The novel cardiac z-disc protein CEFIP regulates cardiomyocyte hypertrophy by modulating calcineurin signaling. Dierck F, et al. J Biol Chem, 2017 Sep 15. PMID 28717008, Free PMC Article
  3. Genome-wide association study of plasma N6 polyunsaturated fatty acids within the cohorts for heart and aging research in genomic epidemiology consortium. Guan W, et al. Circ Cardiovasc Genet, 2014 Jun. PMID 24823311, Free PMC Article
  4. Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium. Wu JH, et al. Circ Cardiovasc Genet, 2013 Apr. PMID 23362303, Free PMC Article
  5. The DNA sequence and comparative analysis of human chromosome 10. Deloukas P, et al. Nature, 2004 May 27. PMID 15164054

See all (11) citations in PubMed

GeneRIFs: Gene References Into Functions

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

EBI GWAS Catalog

Description
Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortiu
EBI GWAS Catalog
Genome-wide association study of plasma N6 polyunsaturated fatty acids within the cohorts for heart and aging research in genomic epidemiology consortium.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ45913

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in positive regulation of calcineurin-NFAT signaling cascade IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in positive regulation of calcineurin-NFAT signaling cascade ISS
Inferred from Sequence or Structural Similarity
more info
  
Component Evidence Code Pubs
is_active_in Z disc IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in Z disc ISS
Inferred from Sequence or Structural Similarity
more info
  

General protein information

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Preferred Names
cardiac-enriched FHL2-interacting protein
Names
cardiac enriched FHL2-interacting protein
uncharacterized protein C10orf71

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.

mRNA and Protein(s)

  1. NM_001135196.2 → NP_001128668.1  cardiac-enriched FHL2-interacting protein

    See identical proteins and their annotated locations for NP_001128668.1

    Status: VALIDATED

    Source sequence(s)
    AC027674, AK127811
    Consensus CDS
    CCDS44387.1
    UniProtKB/Swiss-Prot
    A0AVL8, Q711Q0
    Related
    ENSP00000363259.3, ENST00000374144.8
    Conserved Domains (2) summary
    PHA03307
    Location:972 → 1269
    PHA03307; transcriptional regulator ICP4; Provisional
    pfam15232
    Location:1270 → 1338
    DUF4585; Domain of unknown function (DUF4585)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

    Range
    49297050..49327492
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005269478.5 → XP_005269535.1  cardiac-enriched FHL2-interacting protein isoform X1

    See identical proteins and their annotated locations for XP_005269535.1

    UniProtKB/Swiss-Prot
    A0AVL8, Q711Q0
    Conserved Domains (2) summary
    PHA03307
    Location:972 → 1269
    PHA03307; transcriptional regulator ICP4; Provisional
    pfam15232
    Location:1270 → 1338
    DUF4585; Domain of unknown function (DUF4585)

  2. XM_005269477.4 → XP_005269534.1  cardiac-enriched FHL2-interacting protein isoform X1

    See identical proteins and their annotated locations for XP_005269534.1

    UniProtKB/Swiss-Prot
    A0AVL8, Q711Q0
    Conserved Domains (2) summary
    PHA03307
    Location:972 → 1269
    PHA03307; transcriptional regulator ICP4; Provisional
    pfam15232
    Location:1270 → 1338
    DUF4585; Domain of unknown function (DUF4585)

  3. XM_047424549.1 → XP_047280505.1  cardiac-enriched FHL2-interacting protein isoform X2

  4. XM_017015619.2 → XP_016871108.1  cardiac-enriched FHL2-interacting protein isoform X2

    Conserved Domains (2) summary
    PHA03307
    Location:826 → 1123
    PHA03307; transcriptional regulator ICP4; Provisional
    pfam15232
    Location:1124 → 1192
    DUF4585; Domain of unknown function (DUF4585)

  5. XM_005269476.5 → XP_005269533.1  cardiac-enriched FHL2-interacting protein isoform X1

    See identical proteins and their annotated locations for XP_005269533.1

    UniProtKB/Swiss-Prot
    A0AVL8, Q711Q0
    Conserved Domains (2) summary
    PHA03307
    Location:972 → 1269
    PHA03307; transcriptional regulator ICP4; Provisional
    pfam15232
    Location:1270 → 1338
    DUF4585; Domain of unknown function (DUF4585)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060934.1 Alternate T2T-CHM13v2.0

    Range
    50145795..50176288
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054364671.1 → XP_054220646.1  cardiac-enriched FHL2-interacting protein isoform X1

  2. XM_054364670.1 → XP_054220645.1  cardiac-enriched FHL2-interacting protein isoform X1

  3. XM_054364673.1 → XP_054220648.1  cardiac-enriched FHL2-interacting protein isoform X2

  4. XM_054364674.1 → XP_054220649.1  cardiac-enriched FHL2-interacting protein isoform X2

  5. XM_054364672.1 → XP_054220647.1  cardiac-enriched FHL2-interacting protein isoform X1

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_199459.3: Suppressed sequence

    Description
    NM_199459.3: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q711Q0.2 GenPept UniProtKB/Swiss-Prot:Q711Q0

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