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COL6A4P1 collagen type VI alpha 4 pseudogene 1 [ Homo sapiens (human) ]

Gene ID: 344875, updated on 25-Oct-2022

Summary

Official Symbol
COL6A4P1provided by HGNC
Official Full Name
collagen type VI alpha 4 pseudogene 1provided by HGNC
Primary source
HGNC:HGNC:33484
See related
Ensembl:ENSG00000291281 MIM:612397; AllianceGenome:HGNC:33484
Gene type
pseudo
RefSeq status
PROVISIONAL
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
DIVA; DVWA; VWA6; FAME3; COL6A4; COL6A4P
Summary
This transcribed pseudogene represents the 5' end of a presumed ortholog to a mouse gene which encodes a collagen VI alpha 4 chain protein (GeneID 68553). No complete ORF of comparable size to the mouse protein is found in this gene. The predicted protein lacks a signal peptide; however, this truncated collagen polypeptide may have achieved a different function as suggested by PubMed ID: 18622395. Evidence of in vivo translation is incomplete. A large chromosome break separates this pseudogene from the 3' end of the presumed ortholog (COL6A4P2, GeneID 646300) which is located downstream at chromosome 3q21.3. [provided by RefSeq, Jun 2009]
Annotation information
Note: The RefSeq record representing this transcribed pseudogene is shorter than its presumed genomic span as based on alignments of homologous mouse cDNA and human EST data. [26 Jun 2009]
Expression
Low expression observed in reference dataset See more
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Genomic context

See COL6A4P1 in Genome Data Viewer
Location:
3p25.1
Exon count:
5
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (15165362..15205959, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (15167771..15208368, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (15206869..15247466, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene ribosomal protein S24 pseudogene 10 Neighboring gene RPS3A pseudogene 53 Neighboring gene calpain 7 Neighboring gene SH3BP5 antisense RNA 1 Neighboring gene SH3 domain binding protein 5

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

Other Names

  • collagen VI alpha 4 pseudogene 1
  • collagen, type VI, alpha 4, pseudogene
  • dual intracellular von Willebrand factor domain A
  • dual von Willebrand factor A domains
  • von Willebrand factor A domain containing 6

NCBI Reference Sequences (RefSeq)

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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.

RNA

  1. NR_027927.1 RNA Sequence

    Status: PROVISIONAL

    Source sequence(s)
    AB299979
    Related
    ENST00000446690.2

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_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    15165362..15205959 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    15167771..15208368 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)