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

Gene ID: 118461, updated on 23-Nov-2021

Summary

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
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
Expression
Restricted expression toward heart (RPKM 13.9) See more
Orthologs
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Genomic context

See C10orf71 in Genome Data Viewer
Location:
10q11.23
Exon count:
5
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (49297009..49330145)
105.20201022 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 transmembrane protein 273 Neighboring gene C10orf71 antisense RNA 1 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

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

Phenotypes

Associated conditions

Description Tests
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
GeneReviews: Not available
Genome-wide association study of plasma N6 polyunsaturated fatty acids within the cohorts for heart and aging research in genomic epidemiology consortium.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
located_in Z disc ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

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_001135196.2NP_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
    Q711Q0
    Related
    ENSP00000363259.3, ENST00000374144.8
    Conserved Domains (2) summary
    PHA03307
    Location:9721269
    PHA03307; transcriptional regulator ICP4; Provisional
    pfam15232
    Location:12701338
    DUF4585; Domain of unknown function (DUF4585)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

    Range
    49297009..49330145
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005269478.4XP_005269535.1  cardiac-enriched FHL2-interacting protein isoform X1

    See identical proteins and their annotated locations for XP_005269535.1

    UniProtKB/Swiss-Prot
    Q711Q0
    Conserved Domains (2) summary
    PHA03307
    Location:9721269
    PHA03307; transcriptional regulator ICP4; Provisional
    pfam15232
    Location:12701338
    DUF4585; Domain of unknown function (DUF4585)
  2. XM_017015619.1XP_016871108.1  cardiac-enriched FHL2-interacting protein isoform X2

    Conserved Domains (2) summary
    PHA03307
    Location:8261123
    PHA03307; transcriptional regulator ICP4; Provisional
    pfam15232
    Location:11241192
    DUF4585; Domain of unknown function (DUF4585)
  3. XM_005269477.3XP_005269534.1  cardiac-enriched FHL2-interacting protein isoform X1

    See identical proteins and their annotated locations for XP_005269534.1

    UniProtKB/Swiss-Prot
    Q711Q0
    Conserved Domains (2) summary
    PHA03307
    Location:9721269
    PHA03307; transcriptional regulator ICP4; Provisional
    pfam15232
    Location:12701338
    DUF4585; Domain of unknown function (DUF4585)
  4. XM_005269476.4XP_005269533.1  cardiac-enriched FHL2-interacting protein isoform X1

    See identical proteins and their annotated locations for XP_005269533.1

    UniProtKB/Swiss-Prot
    Q711Q0
    Conserved Domains (2) summary
    PHA03307
    Location:9721269
    PHA03307; transcriptional regulator ICP4; Provisional
    pfam15232
    Location:12701338
    DUF4585; Domain of unknown function (DUF4585)

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.
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