Display Settings:

Format

Send to:

Choose Destination
We are sorry, but NCBI web applications do not support your browser and may not function properly. More information

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

Gene ID: 54862, updated on 6-Jul-2014
Official Symbol
CC2D1Aprovided by HGNC
Official Full Name
coiled-coil and C2 domain containing 1Aprovided by HGNC
Primary source
HGNC:30237
See related
Ensembl:ENSG00000132024; HPRD:08616; MIM:610055; Vega:OTTHUMG00000181852
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 nonsyndromic mental retardation-3.[provided by RefSeq, Oct 2009]
See CC2D1A in Epigenomics, MapViewer
Location:
19p13.12
Exon count :
29
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 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 homolog 3 (Drosophila) 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 X, 1 (influences HLA class II expression)

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Protein interactions

Protein Gene Interaction Pubs
pol 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 Protein Interaction Database

  • SIDS Susceptibility Pathways, organism-specific biosystem (from WikiPathways)
    SIDS Susceptibility Pathways, organism-specific biosystemIn this model, we provide an integrated view of Sudden Infant Death Syndrome (SIDS) at the level of implicated tissues, signaling networks and genetics. The purpose of this model is to serve as an ov...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
negative regulation of transcription from RNA polymerase II promoter IEA
Inferred from Electronic Annotation
more info
 
positive regulation of I-kappaB kinase/NF-kappaB signaling IMP
Inferred from Mutant Phenotype
more info
PubMed 
signal transduction IMP
Inferred from Mutant Phenotype
more info
PubMed 
transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
extracellular vesicular exosome IDA
Inferred from Direct Assay
more info
PubMed 
microtubule organizing center IEA
Inferred from Electronic Annotation
more info
 
nucleus IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
coiled-coil and C2 domain-containing protein 1A
Names
coiled-coil and C2 domain-containing protein 1A
Akt kinase-interacting protein 1
putative NFkB activating protein
FRE under dual repression-binding protein 1
putative NF-kappa-B-activating protein 023N
mental retardation, nonsyndromic, autosomal recessive, 3
five repressor element under dual repression-binding protein 1
five prime repressor element under dual repression-binding protein 1

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 

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

mRNA and Protein(s)

  1. NM_017721.4NP_060191.3  coiled-coil and C2 domain-containing protein 1A

    See proteins identical to NP_060191.3

    Status: REVIEWED

    Source sequence(s)
    BC064981, BP395853, DB065701
    Consensus CDS
    CCDS42512.1
    UniProtKB/Swiss-Prot
    Q6P1N0
    Related
    ENSP00000313601, OTTHUMP00000267668, ENST00000318003, OTTHUMT00000457954
    Conserved Domains (2) summary
    smart00685
    Location:349407
    Blast Score: 232
    DM14; Repeats in fly CG4713, worm Y37H9A.3 and human FLJ20241
    cd08690
    Location:652809
    Blast Score: 650
    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 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000019.10 

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

mRNA and Protein(s)

  1. XM_005259973.1XP_005260030.1  

    UniProtKB/Swiss-Prot
    Q6P1N0
    Related
    ENSP00000467526, OTTHUMP00000267669, ENST00000589606, OTTHUMT00000457956
    Conserved Domains (2) summary
    smart00685
    Location:349407
    Blast Score: 232
    DM14; Repeats in fly CG4713, worm Y37H9A.3 and human FLJ20241
    cd08690
    Location:652809
    Blast Score: 650
    C2_Freud-1; C2 domain found in 5' repressor element under dual repression binding protein-1 (Freud-1)
  2. XM_005259972.1XP_005260029.1  

    Conserved Domains (2) summary
    smart00685
    Location:349407
    Blast Score: 232
    DM14; Repeats in fly CG4713, worm Y37H9A.3 and human FLJ20241
    cd08690
    Location:651808
    Blast Score: 650
    C2_Freud-1; C2 domain found in 5' repressor element under dual repression binding protein-1 (Freud-1)
  3. XM_005259974.1XP_005260031.1  

    Conserved Domains (2) summary
    smart00685
    Location:349407
    Blast Score: 232
    DM14; Repeats in fly CG4713, worm Y37H9A.3 and human FLJ20241
    cd08690
    Location:648805
    Blast Score: 650
    C2_Freud-1; C2 domain found in 5' repressor element under dual repression binding protein-1 (Freud-1)
  4. XM_005259975.1XP_005260032.1  

    Conserved Domains (2) summary
    smart00685
    Location:349407
    Blast Score: 232
    DM14; Repeats in fly CG4713, worm Y37H9A.3 and human FLJ20241
    cd08690
    Location:647804
    Blast Score: 650
    C2_Freud-1; C2 domain found in 5' repressor element under dual repression binding protein-1 (Freud-1)

Alternate HuRef

Genomic

  1. AC_000151.1 

    Range
    13588253..13612989
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018930.2 

    Range
    14017664..14042297
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Supplemental Content

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...