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    CDHR5 cadherin related family member 5 [ Homo sapiens (human) ]

    Gene ID: 53841, updated on 17-Jun-2024

    Summary

    Official Symbol
    CDHR5provided by HGNC
    Official Full Name
    cadherin related family member 5provided by HGNC
    Primary source
    HGNC:HGNC:7521
    See related
    Ensembl:ENSG00000099834 MIM:606839; AllianceGenome:HGNC:7521
    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
    MLPCDH; MUCDHL; MUPCDH; MU-PCDH
    Summary
    This gene is a novel mucin-like gene that is a member of the cadherin superfamily. While encoding nonpolymorphic tandem repeats rich in proline, serine and threonine similar to mucin proteins, the gene also contains sequence encoding calcium-binding motifs found in all cadherins. The role of the hybrid extracellular region and the specific function of this protein have not yet been determined. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jan 2010]
    Expression
    Biased expression in small intestine (RPKM 219.8), duodenum (RPKM 209.0) and 3 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See CDHR5 in Genome Data Viewer
    Location:
    11p15.5
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (616583..624955, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (665199..673567, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (616583..624955, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene translation initiation factor IF-2-like Neighboring gene PHD and ring finger domains 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:583763-584264 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:584265-584764 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:595501-596000 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:604659-605277 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:612434-613028 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:613623-614217 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:614812-615406 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:620099-620704 Neighboring gene interferon regulatory factor 7 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:626715-627215 Neighboring gene secretin Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:635551-636086 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:636087-636620 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:637156-637689 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:637690-638224 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:638225-638758 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:638759-639293 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:639294-639827 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:640193-640804 Neighboring gene dopamine receptor D4

    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

    Clone Names

    • FLJ20219

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables beta-catenin binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables calcium ion binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables cell adhesion molecule binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in brush border assembly IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cell adhesion IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cell adhesion ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in homophilic cell adhesion via plasma membrane adhesion molecules IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in intermicrovillar adhesion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of microvillus length IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in apical plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in brush border membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in clathrin-coated pit IEA
    Inferred from Electronic Annotation
    more info
     
    located_in extracellular exosome HDA PubMed 
    located_in microvillus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in microvillus membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    cadherin-related family member 5
    Names
    differentiation-associated catenin regulator
    mu-protocadherin
    mucin and cadherin-like protein

    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.

    mRNA and Protein(s)

    1. NM_001171968.3NP_001165439.2  cadherin-related family member 5 isoform 4 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. This results in a shorter protein (isoform 4), compared to isoform 1.
      Source sequence(s)
      AP006284
      Consensus CDS
      CCDS91397.1
      UniProtKB/TrEMBL
      A0A0G2JMW3
      Related
      ENSP00000351118.4, ENST00000358353.8
      Conserved Domains (2) summary
      cd11304
      Location:274343
      Cadherin_repeat; Cadherin tandem repeat domain
      PHA03247
      Location:454645
      PHA03247; large tegument protein UL36; Provisional
    2. NM_021924.5NP_068743.3  cadherin-related family member 5 isoform 1 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1, also known as MUCDHLFL).
      Source sequence(s)
      AA975851, AF301909, AK300991, AP006284, AY358368, DA373160
      Consensus CDS
      CCDS7707.1
      UniProtKB/Swiss-Prot
      C9J7X1, Q9H746, Q9HAU3, Q9HBB5, Q9HBB6, Q9HBB7, Q9HBB8, Q9NX86, Q9NXI9
      UniProtKB/TrEMBL
      A0A0G2JMW3
      Related
      ENSP00000380676.2, ENST00000397542.7
      Conserved Domains (2) summary
      cd11304
      Location:274343
      Cadherin_repeat; Cadherin tandem repeat domain
      PHA03247
      Location:452651
      PHA03247; large tegument protein UL36; Provisional
    3. NM_031264.5NP_112554.3  cadherin-related family member 5 isoform 3 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an alternate in-frame exon in the 3' coding region, compared to variant 1. This results in a shorter protein (isoform 3), compared to isoform 1.
      Source sequence(s)
      AP006284
      Consensus CDS
      CCDS7708.1
      UniProtKB/TrEMBL
      Q58EZ6
      Related
      ENSP00000345726.7, ENST00000349570.11
      Conserved Domains (1) summary
      cd11304
      Location:274343
      Cadherin_repeat; Cadherin tandem repeat domain

    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_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      616583..624955 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011520190.3XP_011518492.1  cadherin-related family member 5 isoform X5

      Conserved Domains (1) summary
      cd11304
      Location:274343
      Cadherin_repeat; Cadherin tandem repeat domain
    2. XM_011520189.3XP_011518491.1  cadherin-related family member 5 isoform X3

      UniProtKB/TrEMBL
      Q58EZ6
      Conserved Domains (1) summary
      cd11304
      Location:274343
      Cadherin_repeat; Cadherin tandem repeat domain
    3. XM_011520188.3XP_011518490.1  cadherin-related family member 5 isoform X2

      UniProtKB/TrEMBL
      Q58EZ6
      Conserved Domains (2) summary
      cd11304
      Location:274343
      Cadherin_repeat; Cadherin tandem repeat domain
      pfam07001
      Location:452550
      BAT2_N; BAT2 N-terminus
    4. XM_006718253.4XP_006718316.1  cadherin-related family member 5 isoform X1

      UniProtKB/TrEMBL
      A0A0G2JMW3
      Conserved Domains (2) summary
      cd11304
      Location:274343
      Cadherin_repeat; Cadherin tandem repeat domain
      pfam07001
      Location:452534
      BAT2_N; BAT2 N-terminus
    5. XM_024448584.2XP_024304352.1  cadherin-related family member 5 isoform X4

      Conserved Domains (2) summary
      cd11304
      Location:274343
      Cadherin_repeat; Cadherin tandem repeat domain
      cl26464
      Location:452665
      Atrophin-1; Atrophin-1 family

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NT_187586.1 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      146482..154854 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054328908.1XP_054184883.1  cadherin-related family member 5 isoform X5

    2. XM_054328906.1XP_054184881.1  cadherin-related family member 5 isoform X3

      UniProtKB/TrEMBL
      A0A0G2JP44
    3. XM_054328905.1XP_054184880.1  cadherin-related family member 5 isoform X2

      UniProtKB/TrEMBL
      A0A0G2JP44
    4. XM_054328904.1XP_054184879.1  cadherin-related family member 5 isoform X1

      UniProtKB/TrEMBL
      A0A0G2JMW3
    5. XM_054328907.1XP_054184882.1  cadherin-related family member 5 isoform X4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      665199..673567 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054369143.1XP_054225118.1  cadherin-related family member 5 isoform X5

    2. XM_054369141.1XP_054225116.1  cadherin-related family member 5 isoform X3

      UniProtKB/TrEMBL
      Q58EZ6
    3. XM_054369140.1XP_054225115.1  cadherin-related family member 5 isoform X2

      UniProtKB/TrEMBL
      Q58EZ6
    4. XM_054369139.1XP_054225114.1  cadherin-related family member 5 isoform X1

      UniProtKB/TrEMBL
      A0A0G2JMW3
    5. XM_054369142.1XP_054225117.1  cadherin-related family member 5 isoform X4

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_017717.3: Suppressed sequence

      Description
      NM_017717.3: This RefSeq was temporarily suppressed because currently there is not sufficient data to support this transcript.
    2. NM_031265.1: Suppressed sequence

      Description
      NM_031265.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate, and there is an insufficient support for the transcript.