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FAM53C family with sequence similarity 53 member C [ Homo sapiens (human) ]

Gene ID: 51307, updated on 7-Oct-2018

Summary

Official Symbol
FAM53Cprovided by HGNC
Official Full Name
family with sequence similarity 53 member Cprovided by HGNC
Primary source
HGNC:HGNC:1336
See related
Ensembl:ENSG00000120709 MIM:609372; Vega:OTTHUMG00000129201
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
C5orf6
Summary
The protein encoded by this gene belongs to the FAM53 protein family. FAM53 protein family members bind to a transcriptional regulator that modulates cell proliferation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2017]
Expression
Broad expression in bone marrow (RPKM 31.2), testis (RPKM 25.9) and 25 other tissues See more
Orthologs

Genomic context

See FAM53C in Genome Data Viewer
Location:
5q31.2
Exon count:
6
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 5 NC_000005.10 (138337535..138349729)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (137673224..137685418)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene GDNF family receptor alpha 3 Neighboring gene ribosomal protein S27a pseudogene 18 Neighboring gene cell division cycle 25C Neighboring gene uncharacterized LOC100128966 Neighboring gene lysine demethylase 3B Neighboring gene receptor accessory protein 2

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 Jun 15 11:32:44 2016

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 

General protein information

Preferred Names
protein FAM53C
Names
putative nuclear 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_053107.1 RefSeqGene

    Range
    5025..17219
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001135647.1NP_001129119.1  protein FAM53C isoform 1

    See identical proteins and their annotated locations for NP_001129119.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript. Variants 1 and 2 both encode the same protein.
    Source sequence(s)
    AC104116, BC052993, DB035183
    Consensus CDS
    CCDS4204.1
    UniProtKB/Swiss-Prot
    Q9NYF3
    Related
    ENSP00000403705.2, OTTHUMP00000224021, ENST00000434981.6, OTTHUMT00000373619
    Conserved Domains (1) summary
    pfam15242
    Location:1307
    FAM53; Family of FAM53
  2. NM_001350194.1NP_001337123.1  protein FAM53C isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC104116
    Conserved Domains (1) summary
    pfam15242
    Location:4696
    FAM53; Family of FAM53
  3. NM_001350195.1NP_001337124.1  protein FAM53C isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC104116
    Conserved Domains (1) summary
    pfam15242
    Location:10297
    FAM53; Family of FAM53
  4. NM_016605.2NP_057689.1  protein FAM53C isoform 1

    See identical proteins and their annotated locations for NP_057689.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 both encode the same protein.
    Source sequence(s)
    AC104116, AK315567, DA216192
    Consensus CDS
    CCDS4204.1
    UniProtKB/Swiss-Prot
    Q9NYF3
    Related
    ENSP00000239906.5, OTTHUMP00000159487, ENST00000239906.9, OTTHUMT00000251278
    Conserved Domains (1) summary
    pfam15242
    Location:1307
    FAM53; Family of FAM53

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p12 Primary Assembly

    Range
    138337535..138349729
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024446108.1XP_024301876.1  protein FAM53C isoform X1

    Conserved Domains (1) summary
    pfam15242
    Location:52313
    FAM53; Family of FAM53
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