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

Gene ID: 152877, updated on 12-Aug-2022

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; AllianceGenome:HGNC:31860
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
Summary
Predicted to be involved in protein import into nucleus. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in testis (RPKM 2.2), thyroid (RPKM 0.5) and 15 other tissues See more
Orthologs
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Genomic context

See FAM53A in Genome Data Viewer
Location:
4p16.3
Exon count:
14
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (1574062..1686017, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (1637119..1682190, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (1641608..1686040, 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, E3 ubiquitin ligase

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
involved_in protein import into nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
is_active_in 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)

NEW Try the new Transcript table

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, Q6ZUL5
    Related
    ENSP00000426260.1, ENST00000472884.6
    Conserved Domains (1) summary
    pfam15242
    Location:1294
    FAM53; Family of FAM53
  2. NM_001174070.3NP_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, Q6ZUL5
    Related
    ENSP00000310057.6, ENST00000308132.11
    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 Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    1574062..1686017 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047449667.1XP_047305623.1  protein FAM53A isoform X4

  2. XM_047449670.1XP_047305626.1  protein FAM53A isoform X5

  3. XM_047449666.1XP_047305622.1  protein FAM53A isoform X3

  4. XM_047449669.1XP_047305625.1  protein FAM53A isoform X5

  5. XM_011513405.2XP_011511707.1  protein FAM53A isoform X5

    Conserved Domains (1) summary
    pfam15242
    Location:1294
    FAM53; Family of FAM53
  6. XM_047449668.1XP_047305624.1  protein FAM53A isoform X5

  7. XM_024453912.2XP_024309680.1  protein FAM53A isoform X3

    Conserved Domains (1) summary
    pfam15242
    Location:1294
    FAM53; Family of FAM53
  8. XM_047449671.1XP_047305627.1  protein FAM53A isoform X5

  9. XM_047449660.1XP_047305616.1  protein FAM53A isoform X1

    UniProtKB/Swiss-Prot
    Q6ZUL5
  10. XM_047449662.1XP_047305618.1  protein FAM53A isoform X1

    UniProtKB/Swiss-Prot
    Q6ZUL5
  11. XM_047449654.1XP_047305610.1  protein FAM53A isoform X1

    UniProtKB/Swiss-Prot
    Q6ZUL5
  12. XM_047449655.1XP_047305611.1  protein FAM53A isoform X1

    UniProtKB/Swiss-Prot
    Q6ZUL5
  13. XM_047449664.1XP_047305620.1  protein FAM53A isoform X2

    UniProtKB/TrEMBL
    C9JYQ7
  14. XM_047449657.1XP_047305613.1  protein FAM53A isoform X1

    UniProtKB/Swiss-Prot
    Q6ZUL5
  15. XM_047449665.1XP_047305621.1  protein FAM53A isoform X2

    UniProtKB/TrEMBL
    C9JYQ7
  16. XM_011513402.3XP_011511704.1  protein FAM53A isoform X1

    See identical proteins and their annotated locations for XP_011511704.1

    UniProtKB/Swiss-Prot
    Q6NSI3, Q6ZUL5
    Conserved Domains (1) summary
    pfam15242
    Location:1294
    FAM53; Family of FAM53
  17. XM_047449663.1XP_047305619.1  protein FAM53A isoform X2

    UniProtKB/TrEMBL
    C9JYQ7
  18. XM_047449656.1XP_047305612.1  protein FAM53A isoform X1

    UniProtKB/Swiss-Prot
    Q6ZUL5
  19. XM_047449661.1XP_047305617.1  protein FAM53A isoform X1

    UniProtKB/Swiss-Prot
    Q6ZUL5
  20. XM_047449658.1XP_047305614.1  protein FAM53A isoform X1

    UniProtKB/Swiss-Prot
    Q6ZUL5
  21. XM_047449659.1XP_047305615.1  protein FAM53A isoform X1

    UniProtKB/Swiss-Prot
    Q6ZUL5

RNA

  1. XR_007096374.1 RNA Sequence

  2. XR_924913.4 RNA Sequence

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_021159990.1 Reference GRCh38.p14 PATCHES

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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    1637119..1682190 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)