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CCDC120 coiled-coil domain containing 120 [ Homo sapiens (human) ]

Gene ID: 90060, updated on 20-Dec-2019

Summary

Official Symbol
CCDC120provided by HGNC
Official Full Name
coiled-coil domain containing 120provided by HGNC
Primary source
HGNC:HGNC:28910
See related
Ensembl:ENSG00000147144 MIM:300947
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
JM11
Summary
This gene encodes a protein that contains a coiled-coil domain. Several alternatively spliced transcript variants encoding multiple isoforms have been found for this gene. [provided by RefSeq, Nov 2012]
Expression
Ubiquitous expression in skin (RPKM 6.3), esophagus (RPKM 4.8) and 24 other tissues See more
Orthologs

Genomic context

See CCDC120 in Genome Data Viewer
Location:
Xp11.23
Exon count:
11
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (49053572..49069858)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (48910961..48927510)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene GRIP1 associated protein 1 Neighboring gene Sharpr-MPRA regulatory region 9113 Neighboring gene Sharpr-MPRA regulatory region 2669 Neighboring gene transcription factor binding to IGHM enhancer 3 Neighboring gene PRA1 domain family member 2 Neighboring gene WD repeat domain 45 Neighboring gene RNA, U4 small nuclear 52, pseudogene

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 Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
microtubule anchoring at centrosome IGI
Inferred from Genetic Interaction
more info
PubMed 
microtubule anchoring at centrosome IMP
Inferred from Mutant Phenotype
more info
PubMed 
multicellular organism development IEA
Inferred from Electronic Annotation
more info
 
protein localization IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
centriolar subdistal appendage IDA
Inferred from Direct Assay
more info
PubMed 
centriole IDA
Inferred from Direct Assay
more info
PubMed 
endosome IEA
Inferred from Electronic Annotation
more info
 
growth cone IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
coiled-coil domain-containing protein 120

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_016255.2 RefSeqGene

    Range
    10537..21550
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001163321.4NP_001156793.2  coiled-coil domain-containing protein 120 isoform 1

    See identical proteins and their annotated locations for NP_001156793.2

    Status: REVIEWED

    Source sequence(s)
    AC231657
    Consensus CDS
    CCDS55414.2
    UniProtKB/Swiss-Prot
    Q96HB5
    Related
    ENSP00000474071.1, ENST00000603986.6
    Conserved Domains (1) summary
    pfam11819
    Location:43176
    DUF3338; Domain of unknown function (DUF3338)
  2. NM_001163322.2NP_001156794.1  coiled-coil domain-containing protein 120 isoform 2

    See identical proteins and their annotated locations for NP_001156794.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence and lacks an alternate in-frame segment compared to variant 1. The resulting isoform (2) is shorter at the N-terminus and missing a 12 aa internal segment compared to isoform 1.
    Source sequence(s)
    AK293898, BC008769, DA102343
    UniProtKB/Swiss-Prot
    Q96HB5
    Conserved Domains (1) summary
    pfam11819
    Location:6129
    DUF3338; Domain of unknown function (DUF3338)
  3. NM_001163323.3NP_001156795.1  coiled-coil domain-containing protein 120 isoform 4

    See identical proteins and their annotated locations for NP_001156795.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR and coding sequence, lacks an alternate in-frame segment, and differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (4) is shorter at the N-terminus, missing a 12 aa internal segment, and has a shorter and distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AK300366, BC008769, DA102343
    Consensus CDS
    CCDS55413.1
    UniProtKB/Swiss-Prot
    Q96HB5
    Related
    ENSP00000443351.1, ENST00000536628.3
    Conserved Domains (1) summary
    pfam11819
    Location:6129
    DUF3338; Domain of unknown function (DUF3338)
  4. NM_001271835.1NP_001258764.1  coiled-coil domain-containing protein 120 isoform 3

    See identical proteins and their annotated locations for NP_001258764.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR and coding sequence and differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (3) is shorter at the N-terminus and has a shorter and distinct C-terminus compared to isoform 1. Variants 3, 5, and 6 all encode the same isoform (3).
    Source sequence(s)
    AK315837, BC008769, DA102343
    Consensus CDS
    CCDS14316.1
    UniProtKB/Swiss-Prot
    Q96HB5
    Related
    ENSP00000474761.1, ENST00000496529.6
    Conserved Domains (1) summary
    pfam11819
    Location:2140
    DUF3338; Domain of unknown function (DUF3338)
  5. NM_001271836.2NP_001258765.1  coiled-coil domain-containing protein 120 isoform 3

    See identical proteins and their annotated locations for NP_001258765.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) differs in the 5' UTR and coding sequence and differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (3) is shorter at the N-terminus and has a shorter and distinct C-terminus compared to isoform 1. Variants 3, 5, and 6 all encode the same isoform (3).
    Source sequence(s)
    AK291370, BC008769
    Consensus CDS
    CCDS14316.1
    UniProtKB/Swiss-Prot
    Q96HB5
    Related
    ENSP00000470294.1, ENST00000597275.5
    Conserved Domains (1) summary
    pfam11819
    Location:2140
    DUF3338; Domain of unknown function (DUF3338)
  6. NM_033626.3NP_296375.1  coiled-coil domain-containing protein 120 isoform 3

    See identical proteins and their annotated locations for NP_296375.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and coding sequence and the 3' UTR and coding sequence compared to variant 1. The resulting isoform (3) is shorter at the N-terminus and has a shorter and distinct C-terminus compared to isoform 1. Variants 3, 5, and 6 all encode the same isoform (3).
    Source sequence(s)
    BC008769, DA102343
    Consensus CDS
    CCDS14316.1
    UniProtKB/Swiss-Prot
    Q96HB5
    Related
    ENSP00000475676.1, ENST00000606812.5
    Conserved Domains (1) summary
    pfam11819
    Location:2140
    DUF3338; Domain of unknown function (DUF3338)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

    Range
    49053572..49069858
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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