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FAM53A family with sequence similarity 53 member A [ Homo sapiens (human) ]

Gene ID: 152877, updated on 21-Dec-2019

Summary

Official Symbol
FAM53Aprovided by HGNC
Official Full Name
family with sequence similarity 53 member Aprovided by HGNC
Primary source
HGNC:HGNC:31860
See related
Ensembl:ENSG00000174137 MIM:617229
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
DNTNP
Expression
Broad expression in testis (RPKM 2.2), thyroid (RPKM 0.5) and 15 other tissues See more
Orthologs

Genomic context

See FAM53A in Genome Data Viewer
Location:
4p16.3
Exon count:
9
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (1574055..1684313, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (1641608..1685988, complement)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 3424 Neighboring gene uncharacterized LOC105374348 Neighboring gene VISTA enhancer hs526 Neighboring gene uncharacterized LOC105374349 Neighboring gene stem-loop binding protein Neighboring gene transmembrane protein 129

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
protein import into nucleus 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
protein FAM53A
Names
dorsal neural-tube 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.

mRNA and Protein(s)

  1. NM_001013622.3NP_001013644.1  protein FAM53A isoform 1

    See identical proteins and their annotated locations for NP_001013644.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1). Both variants 1 and 2 encode the same isoform.
    Source sequence(s)
    AC016773, AC147067
    Consensus CDS
    CCDS33939.1
    UniProtKB/Swiss-Prot
    Q6NSI3
    Related
    ENSP00000426260.1, ENST00000472884.6
    Conserved Domains (1) summary
    pfam15242
    Location:1294
    FAM53; Family of FAM53
  2. NM_001174070.2NP_001167541.1  protein FAM53A isoform 1

    See identical proteins and their annotated locations for NP_001167541.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Both variants 1 and 2 encode the same isoform (1).
    Source sequence(s)
    AC147067, BC070112, HY040719
    Consensus CDS
    CCDS33939.1
    UniProtKB/Swiss-Prot
    Q6NSI3
    Related
    ENSP00000310057.6, ENST00000308132.10
    Conserved Domains (1) summary
    pfam15242
    Location:1294
    FAM53; Family of FAM53
  3. NM_001297435.1NP_001284364.1  protein FAM53A isoform 2

    See identical proteins and their annotated locations for NP_001284364.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and contains an alternate exon in the central coding region, which results in a frameshift, compared to variant 1. The encoded isoform (2) has a shorter and distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AC147067, AK125566, BC042071
    Consensus CDS
    CCDS75091.1
    UniProtKB/Swiss-Prot
    Q6NSI3
    UniProtKB/TrEMBL
    C9JYQ7
    Related
    ENSP00000419044.1, ENST00000489363.5
    Conserved Domains (1) summary
    pfam15242
    Location:1294
    FAM53; Family of FAM53

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_000004.12 Reference GRCh38.p13 Primary Assembly

    Range
    1574055..1684313 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011513404.2XP_011511706.1  protein FAM53A isoform X4

    Conserved Domains (1) summary
    pfam15242
    Location:1294
    FAM53; Family of FAM53
  2. XM_024453912.1XP_024309680.1  protein FAM53A isoform X3

    Conserved Domains (1) summary
    pfam15242
    Location:1294
    FAM53; Family of FAM53
  3. XM_011513405.1XP_011511707.1  protein FAM53A isoform X5

    Conserved Domains (1) summary
    pfam15242
    Location:1294
    FAM53; Family of FAM53
  4. XM_011513403.1XP_011511705.1  protein FAM53A isoform X3

    Conserved Domains (1) summary
    pfam15242
    Location:1294
    FAM53; Family of FAM53
  5. XM_005247948.3XP_005248005.1  protein FAM53A isoform X1

    See identical proteins and their annotated locations for XP_005248005.1

    UniProtKB/Swiss-Prot
    Q6NSI3
    Conserved Domains (1) summary
    pfam15242
    Location:1294
    FAM53; Family of FAM53
  6. XM_017007802.1XP_016863291.1  protein FAM53A isoform X2

    UniProtKB/TrEMBL
    C9JYQ7
    Conserved Domains (1) summary
    pfam15242
    Location:1294
    FAM53; Family of FAM53
  7. XM_011513402.2XP_011511704.1  protein FAM53A isoform X1

    See identical proteins and their annotated locations for XP_011511704.1

    UniProtKB/Swiss-Prot
    Q6NSI3
    Conserved Domains (1) summary
    pfam15242
    Location:1294
    FAM53; Family of FAM53

RNA

  1. XR_924913.3 RNA Sequence

Reference GRCh38.p13 PATCHES

Genomic

  1. NW_021159990.1 Reference GRCh38.p13 PATCHES

    Range
    214780..232370 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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