Format

Send to:

Choose Destination

COL24A1 collagen type XXIV alpha 1 chain [ Homo sapiens (human) ]

Gene ID: 255631, updated on 1-Aug-2020

Summary

Official Symbol
COL24A1provided by HGNC
Official Full Name
collagen type XXIV alpha 1 chainprovided by HGNC
Primary source
HGNC:HGNC:20821
See related
Ensembl:ENSG00000171502 MIM:610025
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
Summary
This gene is a member of the collagen gene family and is thought to regulate type I collagen fibrillogenesis during fetal development. [provided by RefSeq, Mar 2017]
Expression
Low expression observed in reference dataset See more
Orthologs

Genomic context

See COL24A1 in Genome Data Viewer
Location:
1p22.3
Exon count:
66
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (85728507..86156987, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (86194916..86622121, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene zinc finger HIT-type containing 6 Neighboring gene uncharacterized LOC105378823 Neighboring gene RNA, 5S ribosomal pseudogene 51 Neighboring gene uncharacterized LOC107985061 Neighboring gene long intergenic non-protein coding RNA 2795 Neighboring gene uncharacterized LOC105378825

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?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC142214

Gene Ontology Provided by GOA

Function Evidence Code Pubs
extracellular matrix structural constituent IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
extracellular matrix structural constituent conferring tensile strength RCA
inferred from Reviewed Computational Analysis
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
extracellular matrix organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
collagen trimer IEA
Inferred from Electronic Annotation
more info
 
collagen-containing extracellular matrix HDA PubMed 
endoplasmic reticulum lumen TAS
Traceable Author Statement
more info
 
extracellular matrix IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
extracellular region TAS
Traceable Author Statement
more info
 
extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
collagen alpha-1(XXIV) chain
Names
collagen, type XXIV, alpha 1

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_053093.1 RefSeqGene

    Range
    5265..432804
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001349955.1NP_001336884.1  collagen alpha-1(XXIV) chain isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) encodes isoform 2.
    Source sequence(s)
    AC099561, AC104455, AL356059, AL359971, AL445427
    Conserved Domains (3) summary
    pfam01391
    Location:603662
    Collagen; Collagen triple helix repeat (20 copies)
    pfam03157
    Location:208711
    Glutenin_hmw; High molecular weight glutenin subunit
    cl02436
    Location:8161013
    COLFI; Fibrillar collagen C-terminal domain
  2. NM_152890.7NP_690850.2  collagen alpha-1(XXIV) chain isoform 1 precursor

    See identical proteins and their annotated locations for NP_690850.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AC099561, AC104455, AL356059, AL359971, AL445427
    Consensus CDS
    CCDS41353.1
    UniProtKB/Swiss-Prot
    Q17RW2
    Related
    ENSP00000359603.2, ENST00000370571.7
    Conserved Domains (3) summary
    pfam01391
    Location:13031362
    Collagen; Collagen triple helix repeat (20 copies)
    cl02436
    Location:15161713
    COLFI; Fibrillar collagen C-terminal domain
    cl22861
    Location:41227
    LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...

RNA

  1. NR_146340.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC099561, AC104455, AL356059, AL359971, AL445427
  2. NR_146341.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC099561, AC104455, AL356059, AL359971, AL445427
  3. NR_146342.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC099561, AC104455, AL356059, AL359971, AL445427
  4. NR_146343.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC099561, AC104455, AL356059, AL359971, AL445427
  5. NR_146344.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC099561, AC104455, AL356059, AL359971, AL445427
  6. NR_146345.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC099561, AC104455, AL356059, AL359971, AL445427

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20200522

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    85728507..86156987 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017000924.2XP_016856413.1  collagen alpha-1(XXIV) chain isoform X1

  2. XM_017000925.2XP_016856414.1  collagen alpha-1(XXIV) chain isoform X1

  3. XM_017000927.1XP_016856416.1  collagen alpha-1(XXIV) chain isoform X3

  4. XM_017000926.1XP_016856415.1  collagen alpha-1(XXIV) chain isoform X2

  5. XM_017000928.2XP_016856417.1  collagen alpha-1(XXIV) chain isoform X4

  6. XM_017000929.2XP_016856418.1  collagen alpha-1(XXIV) chain isoform X5

  7. XM_017000930.1XP_016856419.1  collagen alpha-1(XXIV) chain isoform X6

    UniProtKB/TrEMBL
    F8WDM8
    Related
    ENSP00000409515.1, ENST00000426639.5

RNA

  1. XR_001737092.1 RNA Sequence

Support Center