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COL4A5 collagen, type IV, alpha 5 [ Homo sapiens (human) ]

Gene ID: 1287, updated on 19-Jul-2014
Official Symbol
COL4A5provided by HGNC
Official Full Name
collagen, type IV, alpha 5provided by HGNC
Primary source
HGNC:2207
Locus tag
RP6-24A23.5
See related
Ensembl:ENSG00000188153; HPRD:02363; MIM:303630; Vega:OTTHUMG00000022182
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
ATS; ASLN; CA54
Summary
This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. Mutations in this gene are associated with X-linked Alport syndrome, also known as hereditary nephritis. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene so that each gene pair shares a common promoter. Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Aug 2010]
See COL4A5 in Epigenomics, MapViewer
Location:
Xq22
Exon count:
55
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) X NC_000023.11 (108439771..108697545)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (107683019..107940775)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene autophagy related 4A, cysteine peptidase Neighboring gene collagen, type IV, alpha 6 Neighboring gene uncharacterized LOC101928358 Neighboring gene insulin receptor substrate 4

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2012-03-22)

ISCA Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2012-03-22)

ISCA Genome Curation Page

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp160, precursor env HIV-1 gp160 and serum-free macrophage supernatant (MSP) enhance synthesis of type IV collagen by mesangial cells; anti-TGF-beta antibodies attenuate this gp160/MSP-induced collagen synthesis PubMed

Go to the HIV-1, Human Protein Interaction Database

  • Amoebiasis, organism-specific biosystem (from KEGG)
    Amoebiasis, organism-specific biosystemEntamoeba histolytica, an extracellular protozoan parasite is a human pathogen that invades the intestinal epithelium. Infection occurs on ingestion of contaminated water and food. The pathogenesis o...
  • Amoebiasis, conserved biosystem (from KEGG)
    Amoebiasis, conserved biosystemEntamoeba histolytica, an extracellular protozoan parasite is a human pathogen that invades the intestinal epithelium. Infection occurs on ingestion of contaminated water and food. The pathogenesis o...
  • Assembly of collagen fibrils and other multimeric structures, organism-specific biosystem (from REACTOME)
    Assembly of collagen fibrils and other multimeric structures, organism-specific biosystemCollagen trimers in triple-helical form, referred to as procollagen or collagen molecules, are exported from the ER and trafficked through the Golgi network before secretion into the extracellular sp...
  • Axon guidance, organism-specific biosystem (from REACTOME)
    Axon guidance, organism-specific biosystemAxon guidance / axon pathfinding is the process by which neurons send out axons to reach the correct targets. Growing axons have a highly motile structure at the growing tip called the growth cone, w...
  • Collagen biosynthesis and modifying enzymes, organism-specific biosystem (from REACTOME)
    Collagen biosynthesis and modifying enzymes, organism-specific biosystemThe biosynthesis of collagen is a multistep process. Collagen propeptides are cotranslationally translocated into the ER lumen. Propeptides undergo a number of post-translational modifications. Proli...
  • Collagen formation, organism-specific biosystem (from REACTOME)
    Collagen formation, organism-specific biosystemCollagen is a family of at least 29 structural proteins derived from over 40 human genes (Myllyharju & Kivirikko 2004). It is the main component of connective tissue, and the most abundant protein in...
  • Developmental Biology, organism-specific biosystem (from REACTOME)
    Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
  • ECM-receptor interaction, organism-specific biosystem (from KEGG)
    ECM-receptor interaction, organism-specific biosystemThe extracellular matrix (ECM) consists of a complex mixture of structural and functional macromolecules and serves an important role in tissue and organ morphogenesis and in the maintenance of cell ...
  • ECM-receptor interaction, conserved biosystem (from KEGG)
    ECM-receptor interaction, conserved biosystemThe extracellular matrix (ECM) consists of a complex mixture of structural and functional macromolecules and serves an important role in tissue and organ morphogenesis and in the maintenance of cell ...
  • Extracellular matrix organization, organism-specific biosystem (from REACTOME)
    Extracellular matrix organization, organism-specific biosystemThe extracellular matrix is a component of all mammalian tissues, a network consisting largely of the fibrous proteins collagen, elastin and associated-microfibrils, fibronectin and laminins embedded...
  • Focal adhesion, organism-specific biosystem (from KEGG)
    Focal adhesion, organism-specific biosystemCell-matrix adhesions play essential roles in important biological processes including cell motility, cell proliferation, cell differentiation, regulation of gene expression and cell survival. At the...
  • Focal adhesion, conserved biosystem (from KEGG)
    Focal adhesion, conserved biosystemCell-matrix adhesions play essential roles in important biological processes including cell motility, cell proliferation, cell differentiation, regulation of gene expression and cell survival. At the...
  • NCAM signaling for neurite out-growth, organism-specific biosystem (from REACTOME)
    NCAM signaling for neurite out-growth, organism-specific biosystemThe neural cell adhesion molecule, NCAM, is a member of the immunoglobulin (Ig) superfamily and is involved in a variety of cellular processes of importance for the formation and maintenance of the n...
  • NCAM1 interactions, organism-specific biosystem (from REACTOME)
    NCAM1 interactions, organism-specific biosystemThe neural cell adhesion molecule, NCAM1 is generally considered as a cell adhesion mediator, but it is also considered to be a signal transducing receptor molecule. NCAM1 is involved in multiple cis...
  • PI3K-Akt signaling pathway, organism-specific biosystem (from KEGG)
    PI3K-Akt signaling pathway, organism-specific biosystemThe phosphatidylinositol 3' -kinase(PI3K)-Akt signaling pathway is activated by many types of cellular stimuli or toxic insults and regulates fundamental cellular functions such as transcription, tra...
  • PI3K-Akt signaling pathway, conserved biosystem (from KEGG)
    PI3K-Akt signaling pathway, conserved biosystemThe phosphatidylinositol 3' -kinase(PI3K)-Akt signaling pathway is activated by many types of cellular stimuli or toxic insults and regulates fundamental cellular functions such as transcription, tra...
  • Pathways in cancer, organism-specific biosystem (from KEGG)
    Pathways in cancer, organism-specific biosystem
    Pathways in cancer
  • Protein digestion and absorption, organism-specific biosystem (from KEGG)
    Protein digestion and absorption, organism-specific biosystemProtein is a dietary component essential for nutritional homeostasis in humans. Normally, ingested protein undergoes a complex series of degradative processes following the action of gastric, pancrea...
  • Protein digestion and absorption, conserved biosystem (from KEGG)
    Protein digestion and absorption, conserved biosystemProtein is a dietary component essential for nutritional homeostasis in humans. Normally, ingested protein undergoes a complex series of degradative processes following the action of gastric, pancrea...
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by PDGF, organism-specific biosystem (from REACTOME)
    Signaling by PDGF, organism-specific biosystemPlatelet-derived Growth Factor (PDGF) is a potent stimulator of growth and motility of connective tissue cells such as fibroblasts and smooth muscle cells as well as other cells such as capillary end...
  • Small cell lung cancer, organism-specific biosystem (from KEGG)
    Small cell lung cancer, organism-specific biosystemLung cancer is a leading cause of cancer death among men and women in industrialized countries. Small cell lung carcinoma (SCLC) is a highly aggressive neoplasm, which accounts for approximately 25% ...
  • Small cell lung cancer, conserved biosystem (from KEGG)
    Small cell lung cancer, conserved biosystemLung cancer is a leading cause of cancer death among men and women in industrialized countries. Small cell lung carcinoma (SCLC) is a highly aggressive neoplasm, which accounts for approximately 25% ...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Clone Names

  • MGC42377, MGC167109, DKFZp686G1497

Gene Ontology Provided by GOA

Function Evidence Code Pubs
extracellular matrix structural constituent IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
axon guidance TAS
Traceable Author Statement
more info
 
collagen catabolic process TAS
Traceable Author Statement
more info
 
extracellular matrix disassembly TAS
Traceable Author Statement
more info
 
extracellular matrix organization TAS
Traceable Author Statement
more info
 
neuromuscular junction development IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
basal lamina IEA
Inferred from Electronic Annotation
more info
 
collagen type IV trimer IEA
Inferred from Electronic Annotation
more info
 
endoplasmic reticulum lumen TAS
Traceable Author Statement
more info
 
extracellular region TAS
Traceable Author Statement
more info
 
neuromuscular junction IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
collagen alpha-5(IV) chain
Names
collagen alpha-5(IV) chain
dA24A23.1
dA149D17.3
collagen IV, alpha-5 polypeptide
collagen of basement membrane, alpha-5 chain

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_011977.1 

    Range
    4921..262622
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000495.4NP_000486.1  collagen alpha-5(IV) chain isoform 1 precursor

    See proteins identical to NP_000486.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) lacks an in-frame segment in the coding region, compared to variant 2. The resulting isoform (1) lacks two Gly-X-Y repeats, compared to isoform 2.
    Source sequence(s)
    BC035387, BC151846, BU688037, DA461056, M31115
    Consensus CDS
    CCDS14543.1
    UniProtKB/TrEMBL
    A7MBN3
    UniProtKB/Swiss-Prot
    P29400
    UniProtKB/TrEMBL
    Q49AM6
    Related
    ENSP00000354505, OTTHUMP00000023838, ENST00000361603, OTTHUMT00000057880
    Conserved Domains (3) summary
    smart00111
    Location:15711684
    Blast Score: 529
    C4; C-terminal tandem repeated domain in type 4 procollagens
    pfam01413
    Location:14611570
    Blast Score: 568
    C4; C-terminal tandem repeated domain in type 4 procollagen
    pfam01391
    Location:12851344
    Blast Score: 108
    Collagen; Collagen triple helix repeat (20 copies)
  2. NM_033380.2NP_203699.1  collagen alpha-5(IV) chain isoform 2 precursor

    See proteins identical to NP_203699.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) encodes the longer isoform (2).
    Source sequence(s)
    BC035387, BC151846, BU688037, DA461056, M31115
    Consensus CDS
    CCDS35366.1
    UniProtKB/TrEMBL
    A7MBN3
    UniProtKB/Swiss-Prot
    P29400
    UniProtKB/TrEMBL
    Q49AM6
    Related
    ENSP00000331902, OTTHUMP00000217926, ENST00000328300, OTTHUMT00000360023
    Conserved Domains (3) summary
    smart00111
    Location:15771690
    Blast Score: 529
    C4; C-terminal tandem repeated domain in type 4 procollagens
    pfam01413
    Location:14671576
    Blast Score: 568
    C4; C-terminal tandem repeated domain in type 4 procollagen
    pfam01391
    Location:12911350
    Blast Score: 108
    Collagen; Collagen triple helix repeat (20 copies)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000023.11 

    Range
    108439771..108697545
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006724616.1XP_006724679.1  

    See proteins identical to XP_006724679.1

    UniProtKB/Swiss-Prot
    P29400
    Conserved Domains (3) summary
    smart00111
    Location:15771690
    Blast Score: 529
    C4; C-terminal tandem repeated domain in type 4 procollagens
    pfam01413
    Location:14671576
    Blast Score: 568
    C4; C-terminal tandem repeated domain in type 4 procollagen
    pfam01391
    Location:12911350
    Blast Score: 108
    Collagen; Collagen triple helix repeat (20 copies)
  2. XM_005262070.2XP_005262127.1  

    See proteins identical to XP_005262127.1

    Conserved Domains (3) summary
    smart00111
    Location:15741687
    Blast Score: 529
    C4; C-terminal tandem repeated domain in type 4 procollagens
    pfam01413
    Location:14641573
    Blast Score: 568
    C4; C-terminal tandem repeated domain in type 4 procollagen
    pfam01391
    Location:12881347
    Blast Score: 108
    Collagen; Collagen triple helix repeat (20 copies)
  3. XM_005262072.2XP_005262129.1  

    Conserved Domains (1) summary
    pfam01391
    Location:515587
    Blast Score: 101
    Collagen; Collagen triple helix repeat (20 copies)

Alternate HuRef

Genomic

  1. AC_000155.1 

    Range
    97304982..97564656
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018934.2 

    Range
    107593900..107851643
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_033381.1: Suppressed sequence

    Description
    NM_033381.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.