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PAPD7 PAP associated domain containing 7 [ Homo sapiens (human) ]

Gene ID: 11044, updated on 8-May-2016
Official Symbol
PAPD7provided by HGNC
Official Full Name
PAP associated domain containing 7provided by HGNC
Primary source
HGNC:HGNC:16705
See related
Ensembl:ENSG00000112941 HPRD:09239; MIM:605198; Vega:OTTHUMG00000090457
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
LAK1; POLK; POLS; TRF4; LAK-1; TRF41; TRF4-1; TUTASE5
Summary
The protein encoded by this gene is a DNA polymerase that is likely involved in DNA repair. In addition, the encoded protein may be required for sister chromatid adhesion. Alternatively spliced transcript variants that encode different isoforms have been described. [provided by RefSeq, Jan 2010]
Orthologs
Location:
5p15
Exon count:
14
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 5 NC_000005.10 (6713953..6757048)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (6714076..6757161)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene NOP2/Sun RNA methyltransferase family member 2 Neighboring gene steroid 5 alpha-reductase 1 Neighboring gene uncharacterized LOC100505625 Neighboring gene uncharacterized LOC102724943 Neighboring gene microRNA 4278

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
Genome-wide association studies identify several new loci associated with pigmentation traits and skin cancer risk in European Americans.
NHGRI GWA Catalog
Genome-wide association study identifies ephrin type A receptors implicated in paclitaxel induced peripheral sensory neuropathy.
NHGRI GWA Catalog
Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations.
NHGRI GWA Catalog
  • RNA degradation, organism-specific biosystem (from KEGG)
    RNA degradation, organism-specific biosystemThe correct processing, quality control and turnover of cellular RNA molecules are critical to many aspects in the expression of genetic information. In eukaryotes, two major pathways of mRNA decay e...
  • RNA degradation, conserved biosystem (from KEGG)
    RNA degradation, conserved biosystemThe correct processing, quality control and turnover of cellular RNA molecules are critical to many aspects in the expression of genetic information. In eukaryotes, two major pathways of mRNA decay e...
  • TRAMP complex, organism-specific biosystem (from KEGG)
    TRAMP complex, organism-specific biosystemStructural complex; Genetic information processing; RNA processing
  • TRAMP complex, conserved biosystem (from KEGG)
    TRAMP complex, conserved biosystemStructural complex; Genetic information processing; RNA processing
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding IEA
Inferred from Electronic Annotation
more info
 
DNA-directed DNA polymerase activity IEA
Inferred from Electronic Annotation
more info
 
SMC family protein binding TAS
Traceable Author Statement
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
polynucleotide adenylyltransferase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
DNA biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
cell division IEA
Inferred from Electronic Annotation
more info
 
double-strand break repair NAS
Non-traceable Author Statement
more info
PubMed 
mitotic chromosome condensation NAS
Non-traceable Author Statement
more info
PubMed 
response to drug IDA
Inferred from Direct Assay
more info
PubMed 
sister chromatid cohesion TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
nucleoplasm IEA
Inferred from Electronic Annotation
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
non-canonical poly(A) RNA polymerase PAPD7
Names
DNA polymerase kappa
DNA polymerase sigma
PAP-associated domain-containing protein 7
TRAMP-like complex polyadenylate polymerase
TUTase 5
polymerase (DNA directed) sigma
polymerase (DNA-directed) sigma
terminal uridylyltransferase 5
topoisomerase-related function protein 4-1
NP_001165276.1
NP_001165277.1
NP_008930.1

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_001171805.1NP_001165276.1  non-canonical poly(A) RNA polymerase PAPD7 isoform 2

    See identical proteins and their annotated locations for NP_001165276.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1.
    Source sequence(s)
    AB005754, AI871781, BC143882, R49553
    UniProtKB/Swiss-Prot
    Q5XG87
    UniProtKB/TrEMBL
    B7ZLL4
    Conserved Domains (2) summary
    cd05402
    Location:10121
    NT_PAP_TUTase; Nucleotidyltransferase (NT) domain of poly(A) polymerases and terminal uridylyl transferases
    pfam03828
    Location:178238
    PAP_assoc; Cid1 family poly A polymerase
  2. NM_001171806.1NP_001165277.1  non-canonical poly(A) RNA polymerase PAPD7 isoform 3

    See identical proteins and their annotated locations for NP_001165277.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (3) is shorter than isoform 1.
    Source sequence(s)
    AB005754, AK303516, AK308405, R49553
    UniProtKB/Swiss-Prot
    Q5XG87
    UniProtKB/TrEMBL
    B4E0T3
    Conserved Domains (1) summary
    pfam03828
    Location:258
    PAP_assoc; Cid1 family poly A polymerase
  3. NM_006999.4NP_008930.1  non-canonical poly(A) RNA polymerase PAPD7 isoform 1

    See identical proteins and their annotated locations for NP_008930.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AB005754, AI871781, AK289857, BC084567, BC143882, R49553
    Consensus CDS
    CCDS3871.1
    UniProtKB/Swiss-Prot
    Q5XG87
    UniProtKB/TrEMBL
    B7ZLL4
    Conserved Domains (2) summary
    cd05402
    Location:10121
    NT_PAP_TUTase; Nucleotidyltransferase (NT) domain of poly(A) polymerases and terminal uridylyl transferases
    pfam03828
    Location:178238
    PAP_assoc; Cid1 family poly A polymerase

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p2 Primary Assembly

    Range
    6713953..6757048
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005248234.2XP_005248291.1  

    UniProtKB/TrEMBL
    A0A0X1KG68
    Related
    ENSP00000230859, OTTHUMP00000115520, ENST00000230859, OTTHUMT00000206904
    Conserved Domains (2) summary
    cd05402
    Location:260371
    NT_PAP_TUTase; Nucleotidyltransferase (NT) domain of poly(A) polymerases and terminal uridylyl transferases
    pfam03828
    Location:428488
    PAP_assoc; Cid1 family poly A polymerase
  2. XM_011513946.1XP_011512248.1  

    See identical proteins and their annotated locations for XP_011512248.1

    UniProtKB/Swiss-Prot
    Q5XG87
    Conserved Domains (2) summary
    cd05402
    Location:10121
    NT_PAP_TUTase; Nucleotidyltransferase (NT) domain of poly(A) polymerases and terminal uridylyl transferases
    pfam03828
    Location:178238
    PAP_assoc; Cid1 family poly A polymerase
  3. XM_011513947.1XP_011512249.1  

    See identical proteins and their annotated locations for XP_011512249.1

    UniProtKB/Swiss-Prot
    Q5XG87
    Related
    ENSP00000488642, OTTHUMP00000281463, ENST00000631941, OTTHUMT00000488411
    Conserved Domains (2) summary
    cd05402
    Location:10121
    NT_PAP_TUTase; Nucleotidyltransferase (NT) domain of poly(A) polymerases and terminal uridylyl transferases
    pfam03828
    Location:178238
    PAP_assoc; Cid1 family poly A polymerase
  4. XM_011513945.1XP_011512247.1  

    Conserved Domains (2) summary
    cd05402
    Location:10121
    NT_PAP_TUTase; Nucleotidyltransferase (NT) domain of poly(A) polymerases and terminal uridylyl transferases
    pfam03828
    Location:135195
    PAP_assoc; Cid1 family poly A polymerase

Alternate CHM1_1.1

Genomic

  1. NC_018916.2 Alternate CHM1_1.1

    Range
    6714585..6757027
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)