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    CLDND1 claudin domain containing 1 [ Homo sapiens (human) ]

    Gene ID: 56650, updated on 10-Dec-2024

    Summary

    Official Symbol
    CLDND1provided by HGNC
    Official Full Name
    claudin domain containing 1provided by HGNC
    Primary source
    HGNC:HGNC:1322
    See related
    Ensembl:ENSG00000080822 MIM:619677; AllianceGenome:HGNC:1322
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    Z38; C3orf4; CLDN-25; GENX-3745
    Summary
    Located in cell surface. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in brain (RPKM 128.7), testis (RPKM 51.4) and 23 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See CLDND1 in Genome Data Viewer
    Location:
    3q11.2; 3q12.1
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (98515483..98522902, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (101219167..101226586, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (98234327..98241746, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene olfactory receptor family 5 subfamily K member 1 Neighboring gene olfactory receptor family 5 subfamily K member 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14555 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14556 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20137 Neighboring gene NANOG hESC enhancer GRCh37_chr3:98247209-98247752 Neighboring gene RPL38 pseudogene 4 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14557 Neighboring gene G protein-coupled receptor 15

    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?

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    Knockdown of claudin domain containing 1 (CLDND1) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC3316, MGC9861, MGC111162

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in apical plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cell surface HDA PubMed 

    General protein information

    Preferred Names
    claudin domain-containing protein 1
    Names
    claudin domain containing 1 protein
    membrane protein GENX-3745

    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_001040181.2NP_001035271.1  claudin domain-containing protein 1 isoform a

      See identical proteins and their annotated locations for NP_001035271.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the predominant transcript and encodes isoform a. Variants 1, 2, 3, and 6 all encode the same isoform.
      Source sequence(s)
      AA811441, BC013610, EB386420
      Consensus CDS
      CCDS2930.1
      UniProtKB/Swiss-Prot
      B3KQR1, D3DN36, F2Z2D9, Q502Y8, Q6UVX2, Q9BUZ9, Q9NY35, Q9NZZ5, Q9Y4S9
      UniProtKB/TrEMBL
      D6RCR8
      Related
      ENSP00000340247.6, ENST00000341181.11
      Conserved Domains (1) summary
      cl21598
      Location:17234
      PMP22_Claudin; PMP-22/EMP/MP20/Claudin family
    2. NM_001040182.2NP_001035272.1  claudin domain-containing protein 1 isoform b

      See identical proteins and their annotated locations for NP_001035272.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) includes an alternate 5' exon and may initiate transcription at an upstream AUG, compared to variant 1. Variant 4 encodes an isoform with a longer N-terminus (b), compared to isoform a.
      Source sequence(s)
      BC095441, DB461184
      Consensus CDS
      CCDS46877.1
      UniProtKB/TrEMBL
      A0A0R4J2F2, D6RCR8
      Related
      ENSP00000377735.3, ENST00000394181.6
      Conserved Domains (1) summary
      cl21598
      Location:40257
      PMP22_Claudin; PMP-22/EMP/MP20/Claudin family
    3. NM_001040183.2NP_001035273.1  claudin domain-containing protein 1 isoform a

      See identical proteins and their annotated locations for NP_001035273.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2, 3, and 6 encode the same isoform (a).
      Source sequence(s)
      AA811441, BU784186, CD520771, DB461184, EB386420
      Consensus CDS
      CCDS2930.1
      UniProtKB/Swiss-Prot
      B3KQR1, D3DN36, F2Z2D9, Q502Y8, Q6UVX2, Q9BUZ9, Q9NY35, Q9NZZ5, Q9Y4S9
      UniProtKB/TrEMBL
      D6RCR8
      Related
      ENSP00000421413.1, ENST00000508902.5
      Conserved Domains (1) summary
      cl21598
      Location:17234
      PMP22_Claudin; PMP-22/EMP/MP20/Claudin family
    4. NM_001040199.2NP_001035289.1  claudin domain-containing protein 1 isoform a

      See identical proteins and their annotated locations for NP_001035289.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) differs in the 5' UTR compared to variant 1. Variants 1, 2, 3, and 6 encode the same isoform (a).
      Source sequence(s)
      AA811441, AC021660, BC013610, BF967477, BI552824, EB386420
      Consensus CDS
      CCDS2930.1
      UniProtKB/Swiss-Prot
      B3KQR1, D3DN36, F2Z2D9, Q502Y8, Q6UVX2, Q9BUZ9, Q9NY35, Q9NZZ5, Q9Y4S9
      UniProtKB/TrEMBL
      D6RCR8
      Related
      ENSP00000426869.1, ENST00000513287.5
      Conserved Domains (1) summary
      cl21598
      Location:17234
      PMP22_Claudin; PMP-22/EMP/MP20/Claudin family
    5. NM_001040200.2NP_001035290.1  claudin domain-containing protein 1 isoform d

      See identical proteins and their annotated locations for NP_001035290.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (7) lacks an alternate exon in the 5' coding region and uses an upstream start codon, compared to variant 1. Variant 7 encodes an isoform with a distinct N-terminus (d), compared to isoform a.
      Source sequence(s)
      AA811441, AC021660, DB465920
      Consensus CDS
      CCDS43116.1
      UniProtKB/Swiss-Prot
      Q9NY35
      Related
      ENSP00000424669.1, ENST00000511081.5
      Conserved Domains (1) summary
      cl21598
      Location:44139
      PMP22_Claudin; PMP-22/EMP/MP20/Claudin family
    6. NM_019895.3NP_063948.1  claudin domain-containing protein 1 isoform a

      See identical proteins and their annotated locations for NP_063948.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2, 3, and 6 encode the same isoform (a).
      Source sequence(s)
      AA811441, BC001757, DB461184, EB386420
      Consensus CDS
      CCDS2930.1
      UniProtKB/Swiss-Prot
      B3KQR1, D3DN36, F2Z2D9, Q502Y8, Q6UVX2, Q9BUZ9, Q9NY35, Q9NZZ5, Q9Y4S9
      UniProtKB/TrEMBL
      D6RCR8
      Related
      ENSP00000377734.2, ENST00000394180.6
      Conserved Domains (1) summary
      cl21598
      Location:17234
      PMP22_Claudin; PMP-22/EMP/MP20/Claudin family

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    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
      98515483..98522902 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      101219167..101226586 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001040184.1: Suppressed sequence

      Description
      NM_001040184.1: This RefSeq was suppressed because its 3' exon aligns to MLT1G1 repeat and the coding region in the 3' exon is not supported.