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CC2D1A coiled-coil and C2 domain containing 1A [ Homo sapiens (human) ]

Gene ID: 54862, updated on 13-Feb-2019

Summary

Official Symbol
CC2D1Aprovided by HGNC
Official Full Name
coiled-coil and C2 domain containing 1Aprovided by HGNC
Primary source
HGNC:HGNC:30237
See related
Ensembl:ENSG00000132024 MIM:610055
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
MRT3; FREUD-1; Freud-1/Aki1
Summary
This gene encodes a transcriptional repressor that binds to a conserved 14-bp 5'-repressor element and regulates expression of the 5-hydroxytryptamine (serotonin) receptor 1A gene in neuronal cells. The DNA binding and transcriptional repressor activities of the protein are inhibited by calcium. A mutation in this gene results in a nonsyndromic form of cognitive disability (MRT3). [provided by RefSeq, Jul 2017]
Expression
Ubiquitous expression in duodenum (RPKM 16.8), small intestine (RPKM 12.5) and 25 other tissues See more
Orthologs

Genomic context

See CC2D1A in Genome Data Viewer
Location:
19p13.12
Exon count:
29
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 19 NC_000019.10 (13906143..13930880)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (14016956..14041693)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene nanos C2HC-type zinc finger 3 Neighboring gene microRNA 181c Neighboring gene microRNA 181d Neighboring gene chromosome 19 open reading frame 57 Neighboring gene podocan like 1 Neighboring gene DDB1 and CUL4 associated factor 15 Neighboring gene regulatory factor X1 Neighboring gene uncharacterized LOC107985309

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 FunctionsWhat's a GeneRIF?

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
retropepsin gag-pol Positional proteomics analysis identifies the cleavage of human coiled-coil and C2 domain containing 1A (CC2D1A) at amino acid residues 783-784 by the HIV-1 protease PubMed

Go to the HIV-1, Human Interaction Database

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ20241, FLJ41160

Gene Ontology Provided by GOA

Component Evidence Code Pubs
cytosol IDA
Inferred from Direct Assay
more info
 
extracellular exosome HDA PubMed 
fibrillar center IDA
Inferred from Direct Assay
more info
 
membrane HDA PubMed 
microtubule organizing center IEA
Inferred from Electronic Annotation
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
coiled-coil and C2 domain-containing protein 1A
Names
Akt kinase-interacting protein 1
FRE under dual repression-binding protein 1
five prime repressor element under dual repression-binding protein 1
five repressor element under dual repression-binding protein 1
putative NF-kappa-B-activating protein 023N
putative NFkB activating protein

NCBI Reference Sequences (RefSeq)

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_013089.1 RefSeqGene

    Range
    5001..29738
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_017721.5NP_060191.3  coiled-coil and C2 domain-containing protein 1A

    See identical proteins and their annotated locations for NP_060191.3

    Status: REVIEWED

    Source sequence(s)
    BC064981, DB065701
    Consensus CDS
    CCDS42512.1
    UniProtKB/Swiss-Prot
    Q6P1N0
    Related
    ENSP00000313601.6, ENST00000318003.11
    Conserved Domains (2) summary
    smart00685
    Location:349407
    DM14; Repeats in fly CG4713, worm Y37H9A.3 and human FLJ20241
    cd08690
    Location:652809
    C2_Freud-1; C2 domain found in 5' repressor element under dual repression binding protein-1 (Freud-1)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p12 Primary Assembly

    Range
    13906143..13930880
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024451562.1XP_024307330.1  coiled-coil and C2 domain-containing protein 1A isoform X1

    Conserved Domains (3) summary
    smart00685
    Location:349407
    DM14; Repeats in fly CG4713, worm Y37H9A.3 and human FLJ20241
    cd08690
    Location:652809
    C2_Freud-1; C2 domain found in 5' repressor element under dual repression binding protein-1 (Freud-1)
    cl26464
    Location:116477
    Atrophin-1; Atrophin-1 family
  2. XM_005259973.3XP_005260030.1  coiled-coil and C2 domain-containing protein 1A isoform X5

    UniProtKB/Swiss-Prot
    Q6P1N0
    Related
    ENSP00000467526.1, ENST00000589606.5
    Conserved Domains (2) summary
    smart00685
    Location:349407
    DM14; Repeats in fly CG4713, worm Y37H9A.3 and human FLJ20241
    cd08690
    Location:652809
    C2_Freud-1; C2 domain found in 5' repressor element under dual repression binding protein-1 (Freud-1)
  3. XM_024451563.1XP_024307331.1  coiled-coil and C2 domain-containing protein 1A isoform X2

    Conserved Domains (3) summary
    smart00685
    Location:349407
    DM14; Repeats in fly CG4713, worm Y37H9A.3 and human FLJ20241
    cd08690
    Location:651808
    C2_Freud-1; C2 domain found in 5' repressor element under dual repression binding protein-1 (Freud-1)
    cl26464
    Location:116491
    Atrophin-1; Atrophin-1 family
  4. XM_024451564.1XP_024307332.1  coiled-coil and C2 domain-containing protein 1A isoform X3

    Conserved Domains (3) summary
    smart00685
    Location:349407
    DM14; Repeats in fly CG4713, worm Y37H9A.3 and human FLJ20241
    cd08690
    Location:648805
    C2_Freud-1; C2 domain found in 5' repressor element under dual repression binding protein-1 (Freud-1)
    cl26464
    Location:116485
    Atrophin-1; Atrophin-1 family
  5. XM_005259974.3XP_005260031.1  coiled-coil and C2 domain-containing protein 1A isoform X6

    Conserved Domains (2) summary
    smart00685
    Location:349407
    DM14; Repeats in fly CG4713, worm Y37H9A.3 and human FLJ20241
    cd08690
    Location:648805
    C2_Freud-1; C2 domain found in 5' repressor element under dual repression binding protein-1 (Freud-1)
  6. XM_024451565.1XP_024307333.1  coiled-coil and C2 domain-containing protein 1A isoform X4

    Conserved Domains (3) summary
    smart00685
    Location:349407
    DM14; Repeats in fly CG4713, worm Y37H9A.3 and human FLJ20241
    cd08690
    Location:647804
    C2_Freud-1; C2 domain found in 5' repressor element under dual repression binding protein-1 (Freud-1)
    cl26386
    Location:112284
    DNA_pol3_gamma3; DNA polymerase III subunits gamma and tau domain III
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