Format

Send to:

Choose Destination

FAM120A family with sequence similarity 120A [ Homo sapiens (human) ]

Gene ID: 23196, updated on 3-May-2020

Summary

Official Symbol
FAM120Aprovided by HGNC
Official Full Name
family with sequence similarity 120Aprovided by HGNC
Primary source
HGNC:HGNC:13247
See related
Ensembl:ENSG00000048828 MIM:612265
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
OSSA; C9orf10; HBVPTPAP
Expression
Ubiquitous expression in colon (RPKM 25.6), appendix (RPKM 19.9) and 25 other tissues See more
Orthologs

Genomic context

See FAM120A in Genome Data Viewer
Location:
9q22.31
Exon count:
20
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (93451685..93566112)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (96214173..96328397)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 829, pseudogene Neighboring gene uncharacterized LOC107987097 Neighboring gene Sharpr-MPRA regulatory region 4009 Neighboring gene family with sequence similarity 120A opposite strand Neighboring gene MIA SH3 domain ER export factor 2 pseudogene Neighboring gene microRNA 548au Neighboring gene PHD finger protein 2 Neighboring gene microRNA 4291

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

Clone Names

  • MGC111527, MGC133257

Gene Ontology Provided by GOA

Function Evidence Code Pubs
RNA binding HDA PubMed 
Component Evidence Code Pubs
cytosol IDA
Inferred from Direct Assay
more info
 
membrane HDA PubMed 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
constitutive coactivator of PPAR-gamma-like protein 1
Names
oxidative stess-associated Src activator
oxidative stress-associated Src activator

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_001286722.2NP_001273651.1  constitutive coactivator of PPAR-gamma-like protein 1 isoform b

    See identical proteins and their annotated locations for NP_001273651.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the central coding region, compared to variant 1, resulting in an isoform (b) that is shorter than isoform a.
    Source sequence(s)
    AL353629, AW949787, BC075701, BC111736, BQ020345, BQ421167, D80005
    UniProtKB/Swiss-Prot
    Q9NZB2
  2. NM_001286723.1NP_001273652.1  constitutive coactivator of PPAR-gamma-like protein 1 isoform c

    See identical proteins and their annotated locations for NP_001273652.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks several 3' exons but includes an alternate 3' exon, and it thus differs in the 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (c) has a distinct C-terminus and is significantly shorter than isoform a.
    Source sequence(s)
    BC007879, BC075701, BC111736
    UniProtKB/Swiss-Prot
    Q9NZB2
    Conserved Domains (1) summary
    pfam16181
    Location:327407
    RelB_transactiv; RelB transactivation domain
  3. NM_001286724.2NP_001273653.1  constitutive coactivator of PPAR-gamma-like protein 1 isoform d

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) lacks several 3' exons but includes an alternate 3' exon, and it thus differs in the 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (d) has a distinct C-terminus and is significantly shorter than isoform a.
    Source sequence(s)
    AF214738, AL353629, BC075701, BC111736, CA310462, R40697
    Consensus CDS
    CCDS75859.1
    UniProtKB/Swiss-Prot
    Q9NZB2
    Related
    ENSP00000364538.3, ENST00000375389.7
    Conserved Domains (2) summary
    pfam16181
    Location:327407
    RelB_transactiv; RelB transactivation domain
    cl27975
    Location:330527
    EBV-NA3; Epstein-Barr virus nuclear antigen 3 (EBNA-3)
  4. NM_014612.5NP_055427.2  constitutive coactivator of PPAR-gamma-like protein 1 isoform a

    See identical proteins and their annotated locations for NP_055427.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
    Source sequence(s)
    AL353629, AW949787, BC075701, BC111736, BQ020345, BQ421167, D80005
    Consensus CDS
    CCDS6706.1
    UniProtKB/Swiss-Prot
    Q9NZB2
    Related
    ENSP00000277165.5, ENST00000277165.11
    Conserved Domains (1) summary
    pfam16181
    Location:327407
    RelB_transactiv; RelB transactivation domain

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_000009.12 Reference GRCh38.p13 Primary Assembly

    Range
    93451685..93566112
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005251842.5XP_005251899.1  constitutive coactivator of PPAR-gamma-like protein 1 isoform X4

    See identical proteins and their annotated locations for XP_005251899.1

    Conserved Domains (1) summary
    pfam16181
    Location:327407
    RelB_transactiv; RelB transactivation domain
  2. XM_011518416.3XP_011516718.1  constitutive coactivator of PPAR-gamma-like protein 1 isoform X5

    Conserved Domains (1) summary
    pfam16181
    Location:327407
    RelB_transactiv; RelB transactivation domain
  3. XM_011518412.2XP_011516714.1  constitutive coactivator of PPAR-gamma-like protein 1 isoform X1

    See identical proteins and their annotated locations for XP_011516714.1

    UniProtKB/Swiss-Prot
    Q9NZB2
    Conserved Domains (1) summary
    pfam16181
    Location:327407
    RelB_transactiv; RelB transactivation domain
  4. XM_011518413.2XP_011516715.1  constitutive coactivator of PPAR-gamma-like protein 1 isoform X2

    See identical proteins and their annotated locations for XP_011516715.1

    Conserved Domains (1) summary
    pfam16181
    Location:327407
    RelB_transactiv; RelB transactivation domain
  5. XM_011518414.3XP_011516716.1  constitutive coactivator of PPAR-gamma-like protein 1 isoform X3

    See identical proteins and their annotated locations for XP_011516716.1

Support Center