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FAM120B family with sequence similarity 120B [ Homo sapiens (human) ]

Gene ID: 84498, updated on 7-Jun-2020

Summary

Official Symbol
FAM120Bprovided by HGNC
Official Full Name
family with sequence similarity 120Bprovided by HGNC
Primary source
HGNC:HGNC:21109
See related
Ensembl:ENSG00000112584 MIM:612266
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
CCPG; SAN1; PGCC1; KIAA1838; dJ894D12.1
Expression
Ubiquitous expression in brain (RPKM 5.9), thyroid (RPKM 5.7) and 25 other tissues See more
Orthologs

Genomic context

See FAM120B in Genome Data Viewer
Location:
6q27
Exon count:
15
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (170290703..170407748)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (170615812..170716155)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC154449 Neighboring gene uncharacterized LOC285804 Neighboring gene long intergenic non-protein coding RNA 1624 Neighboring gene translation initiation factor IF-2-like Neighboring gene delta like canonical Notch ligand 1 Neighboring gene microRNA 4644 Neighboring gene VISTA enhancer hs1310 Neighboring gene uncharacterized LOC107986676 Neighboring gene uncharacterized LOC105378161

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

NHGRI GWAS Catalog

Description
A genome-wide meta-analysis of six type 1 diabetes cohorts identifies multiple associated loci.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ55614, KIAA0183

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
fat cell differentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
peroxisome proliferator activated receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
constitutive coactivator of peroxisome proliferator-activated receptor gamma
Names
PPARG constitutive coactivator 1
PPARgamma constitutive coactivator 1
constitutive coactivator of PPAR-gamma
senataxin-associated nuclease 1

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.

mRNA and Protein(s)

  1. NM_001286379.1NP_001273308.1  constitutive coactivator of peroxisome proliferator-activated receptor gamma isoform a

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes isoform a.
    Source sequence(s)
    AJ420589, AK294415, AK299890, AL008628
    Consensus CDS
    CCDS78200.1
    UniProtKB/TrEMBL
    A0A0D9SEJ5, B4DG54, B4DSS4
    Related
    ENSP00000485745.1, ENST00000630384.2
    Conserved Domains (2) summary
    pfam12813
    Location:168241
    XPG_I_2; XPG domain containing
    pfam15548
    Location:318507
    DUF4655; Domain of unknown function (DUF4655)
  2. NM_001286380.1NP_001273309.1  constitutive coactivator of peroxisome proliferator-activated receptor gamma isoform b

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) contains an alternate 5' exon and it thus differs in the 5' UTR and 5' coding region, compared to variant 1. The encoded isoform (b) has a distinct N-terminus and is longer than isoform a.
    Source sequence(s)
    AJ420589, AK294415, AK299890, AL008628
    Consensus CDS
    CCDS75555.1
    UniProtKB/TrEMBL
    B4DG54, B4DSS4, F5GY05
    Related
    ENSP00000440125.1, ENST00000537664.5
    Conserved Domains (2) summary
    pfam12813
    Location:179252
    XPG_I_2; XPG domain containing
    pfam15548
    Location:329518
    DUF4655; Domain of unknown function (DUF4655)
  3. NM_001286381.1NP_001273310.1  constitutive coactivator of peroxisome proliferator-activated receptor gamma isoform d

    See identical proteins and their annotated locations for NP_001273310.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) contains an alternate 5' exon and lacks two additional exons in the 5' coding region, and it thus differs in its 5' UTR and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (d) is shorter at the N-terminus, compared to isoform a.
    Source sequence(s)
    AJ420589, AK296825, AL008628, DQ873695
    Consensus CDS
    CCDS69243.1
    UniProtKB/Swiss-Prot
    Q96EK7
    Related
    ENSP00000485793.1, ENST00000625626.1
  4. NM_032448.3NP_115824.1  constitutive coactivator of peroxisome proliferator-activated receptor gamma isoform c

    See identical proteins and their annotated locations for NP_115824.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) contains an alternate 5' exon and it thus differs in its 5' UTR and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (c) is shorter at the N-terminus, compared to isoform a.
    Source sequence(s)
    AJ420589, AK299890, AL008628, DQ873695
    Consensus CDS
    CCDS5314.1
    UniProtKB/Swiss-Prot
    Q96EK7
    UniProtKB/TrEMBL
    B4DSS4
    Related
    ENSP00000417970.1, ENST00000476287.3
    Conserved Domains (2) summary
    pfam12813
    Location:156229
    XPG_I_2; XPG domain containing
    pfam15548
    Location:306495
    DUF4655; Domain of unknown function (DUF4655)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    170290703..170407748
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024446569.1XP_024302337.1  constitutive coactivator of peroxisome proliferator-activated receptor gamma isoform X1

    Conserved Domains (1) summary
    pfam15548
    Location:306495
    DUF4655; Domain of unknown function (DUF4655)
  2. XM_011536185.3XP_011534487.1  constitutive coactivator of peroxisome proliferator-activated receptor gamma isoform X6

    See identical proteins and their annotated locations for XP_011534487.1

    Conserved Domains (2) summary
    pfam12813
    Location:156229
    XPG_I_2; XPG domain containing
    pfam15548
    Location:318495
    DUF4655; Domain of unknown function (DUF4655)
  3. XM_017011359.2XP_016866848.1  constitutive coactivator of peroxisome proliferator-activated receptor gamma isoform X4

  4. XM_017011360.2XP_016866849.1  constitutive coactivator of peroxisome proliferator-activated receptor gamma isoform X5

  5. XM_024446570.1XP_024302338.1  constitutive coactivator of peroxisome proliferator-activated receptor gamma isoform X2

    Conserved Domains (1) summary
    pfam15548
    Location:306495
    DUF4655; Domain of unknown function (DUF4655)
  6. XM_017011358.2XP_016866847.1  constitutive coactivator of peroxisome proliferator-activated receptor gamma isoform X3

RNA

  1. XR_001743681.2 RNA Sequence

  2. XR_002956307.1 RNA Sequence

  3. XR_002956306.1 RNA Sequence

  4. XR_002956309.1 RNA Sequence

  5. XR_001743679.2 RNA Sequence

  6. XR_002956308.1 RNA Sequence

  7. XR_001743682.2 RNA Sequence

Reference GRCh38.p13 ALT_REF_LOCI_1

Genomic

  1. NT_187553.1 Reference GRCh38.p13 ALT_REF_LOCI_1

    Range
    17941..143632
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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