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    CADM1 cell adhesion molecule 1 [ Homo sapiens (human) ]

    Gene ID: 23705, updated on 16-Apr-2024

    Summary

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    Official Symbol
    CADM1provided by HGNC
    Official Full Name
    cell adhesion molecule 1provided by HGNC
    Primary source
    HGNC:HGNC:5951
    See related
    Ensembl:ENSG00000182985 MIM:605686; AllianceGenome:HGNC:5951
    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
    BL2; ST17; IGSF4; NECL2; RA175; TSLC1; IGSF4A; Necl-2; SYNCAM; sgIGSF; sTSLC-1; synCAM1
    Summary
    Enables signaling receptor binding activity. Involved in several processes, including cell recognition; positive regulation of cytokine production; and susceptibility to natural killer cell mediated cytotoxicity. Located in plasma membrane. Implicated in breast carcinoma and prostate cancer. Biomarker of cervix uteri carcinoma in situ. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in lung (RPKM 23.7), thyroid (RPKM 19.5) and 23 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    11q23.3
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (115169236..115504415, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (115182091..115517534, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (115039956..115375133, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene neurexophilin and PC-esterase domain family member 2 Neighboring gene histone deacetylase 2 pseudogene Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr11:114473708-114474907 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3916 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3917 Neighboring gene neurexophilin and PC-esterase domain family member 4 Neighboring gene uncharacterized LOC105369506 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:114717517-114718016 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:114757957-114759156 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:114800269-114800769 Neighboring gene NANOG hESC enhancer GRCh37_chr11:115035341-115035883 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr11:115079540-115080739 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr11:115093260-115094068 Neighboring gene NANOG hESC enhancer GRCh37_chr11:115141547-115142048 Neighboring gene Sharpr-MPRA regulatory region 15022 Neighboring gene uncharacterized LOC105369509 Neighboring gene CADM1 antisense RNA 1 Neighboring gene NANOG hESC enhancer GRCh37_chr11:115346934-115347601 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3918 Neighboring gene uncharacterized LOC105369511 Neighboring gene ferritin light chain pseudogene 7

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Somatic mutations of CADM1 in aldosterone-producing adenomas and gap junction-dependent regulation of aldosterone production. Wu X, et al. Nat Genet, 2023 Jun. PMID 37291193, Free PMC Article
    2. Analysis of the key ligand receptor CADM1_CADM1 in the regulation of thyroid cancer based on scRNA-seq and bulk RNA-seq data. He H, et al. Front Endocrinol (Lausanne), 2022. PMID 36523593, Free PMC Article
    3. Differential Expression of CADM1 in Gastrointestinal Stromal Tumors of Different Sites and with Different Gene Abnormalities. Yuan J, et al. Pathol Oncol Res, 2021. PMID 34257559, Free PMC Article
    4. The Role of Cell Adhesion Molecule 1 (CADM1) in Cutaneous Malignancies. Sawada Y, et al. Int J Mol Sci, 2020 Dec 20. PMID 33419290, Free PMC Article
    5. Development of anti-human CADM1 monoclonal antibodies as a potential therapy for adult T-cell leukemia/lymphoma. Chilmi S, et al. Int J Hematol, 2020 Oct. PMID 32656636

    See all (221) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. CADM1 impairs the effect of miR-1246 on promoting cell cycle progression in chemo-resistant leukemia cells.
      Title: CADM1 impairs the effect of miR-1246 on promoting cell cycle progression in chemo-resistant leukemia cells.
    2. Cell adhesion molecule 1 expression in mycosis fungoides versus parapsoriasis versus inflammatory dermatosis: an immunohistochemical comparative study.
      Title: Cell adhesion molecule 1 expression in mycosis fungoides versus parapsoriasis versus inflammatory dermatosis: an immunohistochemical comparative study.
    3. Somatic mutations of CADM1 in aldosterone-producing adenomas and gap junction-dependent regulation of aldosterone production.
      Title: Somatic mutations of CADM1 in aldosterone-producing adenomas and gap junction-dependent regulation of aldosterone production.
    4. Interaction of the Hemagglutinin Stalk Region with Cell Adhesion Molecule (CADM) 1 and CADM2 Mediates the Spread between Neurons and Neuropathogenicity of Measles Virus with a Hyperfusogenic Fusion Protein.
      Title: Interaction of the Hemagglutinin Stalk Region with Cell Adhesion Molecule (CADM) 1 and CADM2 Mediates the Spread between Neurons and Neuropathogenicity of Measles Virus with a Hyperfusogenic Fusion Protein.
    5. Analysis of the key ligand receptor CADM1_CADM1 in the regulation of thyroid cancer based on scRNA-seq and bulk RNA-seq data.
      Title: Analysis of the key ligand receptor CADM1_CADM1 in the regulation of thyroid cancer based on scRNA-seq and bulk RNA-seq data.
    6. DNA hypermethylation of CADM1, PAX5, WT1, RARbeta, and PAX6 genes in oropharyngeal cancer associated with human papillomavirus.
      Title: DNA hypermethylation of CADM1, PAX5, WT1, RARβ, and PAX6 genes in oropharyngeal cancer associated with human papillomavirus.
    7. Evidence of islet CADM1-mediated immune cell interactions during human type 1 diabetes.
      Title: Evidence of islet CADM1-mediated immune cell interactions during human type 1 diabetes.
    8. Knockdown of long non-coding RNA LINC01006 represses the development of hepatocellular carcinoma by modulating the miR-194-5p/CADM1 axis.
      Title: Knockdown of long non-coding RNA LINC01006 represses the development of hepatocellular carcinoma by modulating the miR-194-5p/CADM1 axis.
    9. The CADM1 tumor suppressor gene is a major candidate gene in MDS with deletion of the long arm of chromosome 11.
      Title: The CADM1 tumor suppressor gene is a major candidate gene in MDS with deletion of the long arm of chromosome 11.
    10. miR-486 Promotes the Invasion and Cell Cycle Progression of Ovarian Cancer Cells by Targeting CADM1.
      Title: miR-486 Promotes the Invasion and Cell Cycle Progression of Ovarian Cancer Cells by Targeting CADM1.
    Submit: New GeneRIF Correction See all GeneRIFs (182)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Discovery of genetic biomarkers contributing to variation in drug response of cytidine analogues using human lymphoblastoid cell lines.
    EBI GWAS Catalog
    Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci.
    EBI GWAS Catalog
    Longitudinal genome-wide association of cardiovascular disease risk factors in the Bogalusa heart study.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog
    Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC51880, MGC149785, DKFZp686F1789

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables PDZ domain binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    enables cell adhesion molecule binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein homodimerization activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    enables signaling receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables signaling receptor binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables signaling receptor binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    Process Evidence Code Pubs
    NOT involved_in T cell mediated cytotoxicity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    NOT involved_in activated T cell proliferation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in apoptotic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cell recognition IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cell recognition IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in cell recognition ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    involved_in detection of stimulus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in detection of stimulus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in detection of stimulus ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    involved_in heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    involved_in homophilic cell adhesion via plasma membrane adhesion molecules IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in homophilic cell adhesion via plasma membrane adhesion molecules ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    involved_in liver development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of ERBB4 signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of protein phosphorylation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of cytokine production IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of natural killer cell mediated cytotoxicity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of natural killer cell mediated cytotoxicity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    involved_in spermatogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in susceptibility to natural killer cell mediated cytotoxicity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in susceptibility to natural killer cell mediated cytotoxicity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in susceptibility to natural killer cell mediated cytotoxicity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in basolateral plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    located_in cell-cell junction ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    located_in dendrite IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in neuron projection IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in postsynaptic density IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in synapse IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    cell adhesion molecule 1
    Names
    TSLC-1
    TSLC1/Nectin-like 2/IGSF4
    immunoglobulin superfamily member 4
    nectin-like 2
    nectin-like protein 2
    spermatogenic immunoglobulin superfamily
    synaptic cell adhesion molecule
    tumor suppressor in lung cancer 1

    NCBI Reference Sequences (RefSeq)

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    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_001098517.2 → NP_001091987.1  cell adhesion molecule 1 isoform E precursor

      See identical proteins and their annotated locations for NP_001091987.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks three alternate in-frame exons compared to variant 3. The resulting isoform (2, also known as E) has the same N- and C-termini but is shorter compared to isoform A.
      Source sequence(s)
      AF132811, AP003179, BC125103, BI915307, BM309987, CA447277, CA777709
      Consensus CDS
      CCDS53711.1
      UniProtKB/TrEMBL
      A0A0A0MTJ8
      Related
      ENSP00000439176.1, ENST00000542447.6
      Conserved Domains (3) summary
      cd05881
      Location:46 → 140
      Ig1_Necl-2; First (N-terminal) immunoglobulin (Ig)-like domain of nectin-like molecule 2
      cd05883
      Location:161 → 242
      Ig2_Necl-2; Second immunoglobulin (Ig)-like domain of nectin-like molecule 2 (also known as cell adhesion molecule 1 (CADM1))
      smart00409
      Location:252 → 330
      IG; Immunoglobulin

    2. NM_001301043.2 → NP_001287972.1  cell adhesion molecule 1 isoform A precursor

      See identical proteins and their annotated locations for NP_001287972.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) represents the longest transcript and encodes the longest isoform (A).
      Source sequence(s)
      AP003179, BC047021, CA447277, HE586498
      Consensus CDS
      CCDS73399.1
      UniProtKB/TrEMBL
      X5D7A8, X5DNF2
      Related
      ENSP00000329797.6, ENST00000331581.11
      Conserved Domains (4) summary
      cd05881
      Location:46 → 140
      Ig1_Necl-2; First (N-terminal) immunoglobulin (Ig)-like domain of nectin-like molecule 2 (also known as cell adhesion molecule 1 (CADM1))
      cd05883
      Location:161 → 242
      Ig2_Necl-2; Second immunoglobulin (Ig)-like domain of nectin-like molecule 2 (also known as cell adhesion molecule 1 (CADM1))
      smart00408
      Location:259 → 320
      IGc2; Immunoglobulin C-2 Type
      smart00410
      Location:252 → 330
      IG_like; Immunoglobulin like

    3. NM_001301044.2 → NP_001287973.1  cell adhesion molecule 1 isoform B precursor

      See identical proteins and their annotated locations for NP_001287973.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) lacks an alternate in-frame exon compared to variant 3. The resulting isoform (B) has the same N- and C-termini but is shorter compared to isoform A.
      Source sequence(s)
      AP003179, BC047021, CA447277, HE586497
      Consensus CDS
      CCDS73398.1
      UniProtKB/TrEMBL
      X5DNF2, X5DQR8
      Related
      ENSP00000439817.1, ENST00000537058.5
      Conserved Domains (4) summary
      cd05881
      Location:46 → 140
      Ig1_Necl-2; First (N-terminal) immunoglobulin (Ig)-like domain of nectin-like molecule 2 (also known as cell adhesion molecule 1 (CADM1))
      cd05883
      Location:161 → 242
      Ig2_Necl-2; Second immunoglobulin (Ig)-like domain of nectin-like molecule 2 (also known as cell adhesion molecule 1 (CADM1))
      smart00408
      Location:259 → 320
      IGc2; Immunoglobulin C-2 Type
      smart00410
      Location:252 → 330
      IG_like; Immunoglobulin like

    4. NM_001301045.2 → NP_001287974.1  cell adhesion molecule 1 isoform C precursor

      See identical proteins and their annotated locations for NP_001287974.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) lacks an alternate in-frame exon compared to variant 3. The resulting isoform (C) has the same N- and C-termini but is shorter compared to isoform A.
      Source sequence(s)
      AP003179, BC047021, CA447277, KJ534797
      Consensus CDS
      CCDS73397.1
      UniProtKB/TrEMBL
      X5DNF2, X5DQS5
      Related
      ENSP00000440322.1, ENST00000536727.5
      Conserved Domains (3) summary
      cd05881
      Location:46 → 140
      Ig1_Necl-2; First (N-terminal) immunoglobulin (Ig)-like domain of nectin-like molecule 2
      cd05883
      Location:161 → 242
      Ig2_Necl-2; Second immunoglobulin (Ig)-like domain of nectin-like molecule 2 (also known as cell adhesion molecule 1 (CADM1))
      smart00409
      Location:252 → 330
      IG; Immunoglobulin

    5. NM_014333.4 → NP_055148.3  cell adhesion molecule 1 isoform D precursor

      See identical proteins and their annotated locations for NP_055148.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) lacks two alternate in-frame exons compared to variant 3. The resulting isoform (1, also known as D) has the same N- and C-termini but is shorter compared to isoform A.
      Source sequence(s)
      AF132811, AP003179, BC035930, BC125103, BM309987, CA447277, CA777709
      Consensus CDS
      CCDS8373.1
      UniProtKB/Swiss-Prot
      A4FVB5, F5H0J4, H0YGA7, H1ZZV9, H1ZZW1, H1ZZW2, Q86WB8, Q8N2F4, Q9BY67, X5D2C8
      UniProtKB/TrEMBL
      X5D8W0, X5DNF2
      Related
      ENSP00000395359.2, ENST00000452722.7
      Conserved Domains (3) summary
      cd05881
      Location:46 → 140
      Ig1_Necl-2; First (N-terminal) immunoglobulin (Ig)-like domain of nectin-like molecule 2
      cd05883
      Location:161 → 242
      Ig2_Necl-2; Second immunoglobulin (Ig)-like domain of nectin-like molecule 2 (also known as cell adhesion molecule 1 (CADM1))
      smart00409
      Location:252 → 330
      IG; Immunoglobulin

    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
      115169236..115504415 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005271494.4 → XP_005271551.1  cell adhesion molecule 1 isoform X6

      See identical proteins and their annotated locations for XP_005271551.1

      UniProtKB/TrEMBL
      A0A0A0MTJ8
      Conserved Domains (4) summary
      cd05881
      Location:46 → 140
      Ig1_Necl-2; First (N-terminal) immunoglobulin (Ig)-like domain of nectin-like molecule 2 (also known as cell adhesion molecule 1 (CADM1))
      cd05883
      Location:161 → 242
      Ig2_Necl-2; Second immunoglobulin (Ig)-like domain of nectin-like molecule 2 (also known as cell adhesion molecule 1 (CADM1))
      smart00408
      Location:259 → 320
      IGc2; Immunoglobulin C-2 Type
      smart00410
      Location:252 → 330
      IG_like; Immunoglobulin like

    2. XM_047426695.1 → XP_047282651.1  cell adhesion molecule 1 isoform X8

    3. XM_017017457.3 → XP_016872946.1  cell adhesion molecule 1 isoform X1

      UniProtKB/TrEMBL
      X5DNF2

    4. XM_047426691.1 → XP_047282647.1  cell adhesion molecule 1 isoform X3

    5. XM_047426690.1 → XP_047282646.1  cell adhesion molecule 1 isoform X2

    6. XM_047426693.1 → XP_047282649.1  cell adhesion molecule 1 isoform X5

    7. XM_047426692.1 → XP_047282648.1  cell adhesion molecule 1 isoform X4

    8. XM_047426694.1 → XP_047282650.1  cell adhesion molecule 1 isoform X7

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      115182091..115517534 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054368269.1 → XP_054224244.1  cell adhesion molecule 1 isoform X6

    2. XM_054368264.1 → XP_054224239.1  cell adhesion molecule 1 isoform X1

    3. XM_054368266.1 → XP_054224241.1  cell adhesion molecule 1 isoform X3

    4. XM_054368265.1 → XP_054224240.1  cell adhesion molecule 1 isoform X2

    5. XM_054368268.1 → XP_054224243.1  cell adhesion molecule 1 isoform X5

    6. XM_054368267.1 → XP_054224242.1  cell adhesion molecule 1 isoform X4

    7. XM_054368270.1 → XP_054224245.1  cell adhesion molecule 1 isoform X7

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BY67.2 GenPept UniProtKB/Swiss-Prot:Q9BY67

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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