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

    Gene ID: 255631, updated on 5-May-2024

    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; AllianceGenome:HGNC:20821
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Location:
    1p22.3
    Exon count:
    66
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (85729233..86156984, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (85570083..85997700, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (86194916..86622667, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_9316 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:86157154-86157654 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:86157655-86158155 Neighboring gene zinc finger HIT-type containing 6 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:86173373-86174206 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:86174207-86175039 Neighboring gene uncharacterized LOC105378823 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_9389 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:86362341-86362840 Neighboring gene RNA, 5S ribosomal pseudogene 51 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_9402 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1273 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1274 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1275 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_9414 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:86570381-86570882 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_9432 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_9445 Neighboring gene uncharacterized LOC105378825 Neighboring gene long intergenic non-protein coding RNA 2795

    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

    Clone Names

    • MGC142214

    Gene Ontology Provided by GOA

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

    General protein information

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

    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.

    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
      C9J1X6, Q14BD7, Q17RW2, Q59EX5, Q5VY50, Q7Z5L5
      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: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      85729233..86156984 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047417004.1XP_047272960.1  collagen alpha-1(XXIV) chain isoform X3

      UniProtKB/Swiss-Prot
      C9J1X6, Q14BD7, Q17RW2, Q59EX5, Q5VY50, Q7Z5L5
    2. XM_017000925.3XP_016856414.1  collagen alpha-1(XXIV) chain isoform X1

    3. XM_047417015.1XP_047272971.1  collagen alpha-1(XXIV) chain isoform X5

    4. XM_047417016.1XP_047272972.1  collagen alpha-1(XXIV) chain isoform X6

    5. XM_047417001.1XP_047272957.1  collagen alpha-1(XXIV) chain isoform X3

      UniProtKB/Swiss-Prot
      C9J1X6, Q14BD7, Q17RW2, Q59EX5, Q5VY50, Q7Z5L5
    6. XM_017000924.3XP_016856413.1  collagen alpha-1(XXIV) chain isoform X1

    7. XM_047417005.1XP_047272961.1  collagen alpha-1(XXIV) chain isoform X3

      UniProtKB/Swiss-Prot
      C9J1X6, Q14BD7, Q17RW2, Q59EX5, Q5VY50, Q7Z5L5
    8. XM_017000927.2XP_016856416.1  collagen alpha-1(XXIV) chain isoform X4

    9. XM_017000926.2XP_016856415.1  collagen alpha-1(XXIV) chain isoform X2

    10. XM_017000928.3XP_016856417.1  collagen alpha-1(XXIV) chain isoform X8

    11. XM_017000929.3XP_016856418.1  collagen alpha-1(XXIV) chain isoform X9

    12. XM_047417022.1XP_047272978.1  collagen alpha-1(XXIV) chain isoform X7

    13. XM_047417027.1XP_047272983.1  collagen alpha-1(XXIV) chain isoform X10

    14. XM_017000930.2XP_016856419.1  collagen alpha-1(XXIV) chain isoform X11

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      85570083..85997700 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054335789.1XP_054191764.1  collagen alpha-1(XXIV) chain isoform X3

    2. XM_054335786.1XP_054191761.1  collagen alpha-1(XXIV) chain isoform X1

    3. XM_054335792.1XP_054191767.1  collagen alpha-1(XXIV) chain isoform X5

    4. XM_054335793.1XP_054191768.1  collagen alpha-1(XXIV) chain isoform X6

    5. XM_054335788.1XP_054191763.1  collagen alpha-1(XXIV) chain isoform X3

    6. XM_054335785.1XP_054191760.1  collagen alpha-1(XXIV) chain isoform X1

    7. XM_054335790.1XP_054191765.1  collagen alpha-1(XXIV) chain isoform X3

    8. XM_054335791.1XP_054191766.1  collagen alpha-1(XXIV) chain isoform X4

    9. XM_054335787.1XP_054191762.1  collagen alpha-1(XXIV) chain isoform X2

    10. XM_054335795.1XP_054191770.1  collagen alpha-1(XXIV) chain isoform X8

    11. XM_054335796.1XP_054191771.1  collagen alpha-1(XXIV) chain isoform X9

    12. XM_054335794.1XP_054191769.1  collagen alpha-1(XXIV) chain isoform X7

    13. XM_054335797.1XP_054191772.1  collagen alpha-1(XXIV) chain isoform X10

    14. XM_054335798.1XP_054191773.1  collagen alpha-1(XXIV) chain isoform X11