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

Gene ID: 56650, updated on 2-Oct-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, Apr 2022]
Expression
Broad expression in brain (RPKM 128.7), testis (RPKM 51.4) and 23 other tissues See more
Orthologs
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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 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.