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EFCC1 EF-hand and coiled-coil domain containing 1 [ Homo sapiens (human) ]

Gene ID: 79825, updated on 26-Oct-2022

Summary

Official Symbol
EFCC1provided by HGNC
Official Full Name
EF-hand and coiled-coil domain containing 1provided by HGNC
Primary source
HGNC:HGNC:25692
See related
Ensembl:ENSG00000114654 AllianceGenome:HGNC:25692
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
CCDC48; C3orf73
Summary
Predicted to enable calcium ion binding activity. Predicted to be active in cytosol. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in lung (RPKM 5.0), ovary (RPKM 2.3) and 19 other tissues See more
Orthologs
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Genomic context

See EFCC1 in Genome Data Viewer
Location:
3q21.3
Exon count:
14
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (129001304..129040742)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (131746185..131785616)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (128720147..128759585)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene ACAD9 divergent transcript Neighboring gene acyl-CoA dehydrogenase family member 9 Neighboring gene cilia and flagella associated protein 92 (putative) Neighboring gene JMJD4 pseudogene 1 Neighboring gene glycoprotein IX platelet

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

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Tat tat Both HIV-1 Tat 47-59 and FITC-labeled Tat 47-59 peptides downregulate gene expression of coiled-coil domain containing 48 (CCDC48) in U-937 macrophages 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

  • FLJ12053, FLJ12057, MGC138400, DKFZp686B0148

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
is_active_in cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
EF-hand and coiled-coil domain-containing protein 1
Names
EF-hand domain-containing protein ENSP00000381169
coiled-coil domain containing 48
coiled-coil domain-containing protein 48

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_001377500.1NP_001364429.1  EF-hand and coiled-coil domain-containing protein 1 isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC108673, AC112484
    Consensus CDS
    CCDS93371.1
    UniProtKB/TrEMBL
    A0A804HK68
    Related
    ENSP00000507795.1, ENST00000683648.1
    Conserved Domains (1) summary
    pfam15799
    Location:18599
    CCD48; Coiled-coil domain-containing protein 48
  2. NM_001377501.1NP_001364430.1  EF-hand and coiled-coil domain-containing protein 1 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC112484
    Conserved Domains (1) summary
    pfam15799
    Location:18327
    CCD48; Coiled-coil domain-containing protein 48
  3. NM_024768.3NP_079044.2  EF-hand and coiled-coil domain-containing protein 1 isoform 2

    See identical proteins and their annotated locations for NP_079044.2

    Status: VALIDATED

    Source sequence(s)
    AC108673, AC112484, BC093800
    Consensus CDS
    CCDS3054.2
    UniProtKB/Swiss-Prot
    A8MYE2, Q9HA90
    Related
    ENSP00000414597.3, ENST00000436022.2
    Conserved Domains (1) summary
    pfam15799
    Location:18598
    CCD48; Coiled-coil domain-containing protein 48

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
    129001304..129040742
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011513163.4XP_011511465.1  EF-hand and coiled-coil domain-containing protein 1 isoform X3

    Conserved Domains (1) summary
    pfam15799
    Location:18326
    CCD48; Coiled-coil domain-containing protein 48
  2. XM_047448963.1XP_047304919.1  EF-hand and coiled-coil domain-containing protein 1 isoform X2

  3. XM_011513161.3XP_011511463.1  EF-hand and coiled-coil domain-containing protein 1 isoform X1

    Conserved Domains (1) summary
    pfam15799
    Location:3370
    CCD48; Coiled-coil domain-containing protein 48
  4. XM_011513164.3XP_011511466.1  EF-hand and coiled-coil domain-containing protein 1 isoform X4

    Conserved Domains (1) summary
    pfam15799
    Location:31303
    CCD48; Coiled-coil domain-containing protein 48

RNA

  1. XR_924178.4 RNA Sequence

  2. XR_007095727.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    131746185..131785616
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)