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    CHODL chondrolectin [ Homo sapiens (human) ]

    Gene ID: 140578, updated on 5-Mar-2024

    Summary

    Official Symbol
    CHODLprovided by HGNC
    Official Full Name
    chondrolectinprovided by HGNC
    Primary source
    HGNC:HGNC:17807
    See related
    Ensembl:ENSG00000154645 MIM:607247; AllianceGenome:HGNC:17807
    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
    MT75; PRED12; C21orf68
    Summary
    This gene encodes a type I membrane protein with a carbohydrate recognition domain characteristic of C-type lectins in its extracellular portion. In other proteins, this domain is involved in endocytosis of glycoproteins and exogenous sugar-bearing pathogens. This protein localizes predominantly to the perinuclear region. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Feb 2011]
    Expression
    Biased expression in testis (RPKM 14.8), spleen (RPKM 3.6) and 5 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Location:
    21q21.1
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (17917340..18267370)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 21 NC_060945.1 (16276723..16627191)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (19289657..19639687)

    Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124900465 Neighboring gene CHODL antisense RNA 1 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr21:19275561-19276119 Neighboring gene uncharacterized LOC124905000 Neighboring gene ribosomal protein L37 pseudogene 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:19366518-19367018 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:19367019-19367519 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr21:19527809-19528341 Neighboring gene NANOG hESC enhancer GRCh37_chr21:19633596-19634097 Neighboring gene NANOG hESC enhancer GRCh37_chr21:19670536-19671363 Neighboring gene transmembrane serine protease 15 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr21:19940595-19941314 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr21:19941315-19942032 Neighboring gene MIR548X host gene Neighboring gene microRNA 548x

    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

    Phenotypes

    EBI GWAS Catalog

    Description
    Genetic variants associated with disordered eating.
    EBI GWAS Catalog
    Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.
    EBI GWAS Catalog
    Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Clone Names

    • FLJ12627

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables carbohydrate binding IEA
    Inferred from Electronic Annotation
    more info
     
    NOT enables hyaluronic acid 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 muscle organ development NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in nervous system development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of axonogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
     
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in perinuclear region of cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    chondrolectin
    Names
    transmembrane protein MT75

    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.

    Genomic

    1. NG_029478.2 RefSeqGene

      Range
      332495..355032
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001204174.2NP_001191103.1  chondrolectin isoform b

      See identical proteins and their annotated locations for NP_001191103.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (b) has a shorter and distinct N-terminus compared to isoform a.
      Source sequence(s)
      AF257472, AK296009
      Consensus CDS
      CCDS56208.1
      UniProtKB/Swiss-Prot
      Q9H9P2
      Related
      ENSP00000443566.1, ENST00000543733.5
      Conserved Domains (1) summary
      cl02432
      Location:9161
      CLECT; C-type lectin (CTL)/C-type lectin-like (CTLD) domain
    2. NM_001204175.2NP_001191104.1  chondrolectin isoform c

      See identical proteins and their annotated locations for NP_001191104.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (c) is shorter at the N-terminus compared to isoform a. Variants 3 and 4 both encode the same isoform (c).
      Source sequence(s)
      AF257472, AK022689
      Consensus CDS
      CCDS56209.1
      UniProtKB/Swiss-Prot
      Q9H9P2
      Related
      ENSP00000382993.1, ENST00000400128.5
      Conserved Domains (1) summary
      cl02432
      Location:1139
      CLECT; C-type lectin (CTL)/C-type lectin-like (CTLD) domain
    3. NM_001204176.2NP_001191105.1  chondrolectin isoform c

      See identical proteins and their annotated locations for NP_001191105.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (c) is shorter at the N-terminus compared to isoform a. Variants 3 and 4 both encode the same isoform (c).
      Source sequence(s)
      AF257472, AF523314, AP000998
      Consensus CDS
      CCDS56209.1
      UniProtKB/Swiss-Prot
      Q9H9P2
      Related
      ENSP00000382992.1, ENST00000400127.5
      Conserved Domains (1) summary
      cl02432
      Location:1139
      CLECT; C-type lectin (CTL)/C-type lectin-like (CTLD) domain
    4. NM_001204177.2NP_001191106.1  chondrolectin isoform d

      See identical proteins and their annotated locations for NP_001191106.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR and coding sequence and lacks an alternate coding exon compared to variant 1, that causes a frameshift. The resulting isoform (d) has a shorter N-terminus and a longer and distinct C-terminus compared to isoform a. Variants 5 and 6 both encode the same isoform (d).
      Source sequence(s)
      AF257472, AF523315
      Consensus CDS
      CCDS56210.1
      UniProtKB/TrEMBL
      A0A0C4DFS2
      Related
      ENSP00000382996.1, ENST00000400131.5
      Conserved Domains (1) summary
      cl02432
      Location:1139
      CLECT; C-type lectin (CTL)/C-type lectin-like (CTLD) domain
    5. NM_001204178.2NP_001191107.1  chondrolectin isoform d

      See identical proteins and their annotated locations for NP_001191107.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) differs in the 5' UTR and coding sequence and lacks an alternate coding exon compared to variant 1, that causes a frameshift. The resulting isoform (d) has a shorter N-terminus and a longer and distinct C-terminus compared to isoform a. Variants 5 and 6 both encode the same isoform (d).
      Source sequence(s)
      AF257472, AF523313, AL078474, AP000998, KF457034
      Consensus CDS
      CCDS56210.1
      UniProtKB/TrEMBL
      A0A0C4DFS2
      Related
      ENSP00000383001.1, ENST00000400135.5
      Conserved Domains (1) summary
      cl02432
      Location:1139
      CLECT; C-type lectin (CTL)/C-type lectin-like (CTLD) domain
    6. NM_024944.3NP_079220.2  chondrolectin isoform a precursor

      See identical proteins and their annotated locations for NP_079220.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
      Source sequence(s)
      AF257472
      Consensus CDS
      CCDS13570.1
      UniProtKB/Swiss-Prot
      B2R9C0, B4DJB8, Q7Z798, Q7Z799, Q7Z7A0, Q9H9P2, Q9HCY3
      Related
      ENSP00000299295.2, ENST00000299295.7
      Conserved Domains (1) summary
      cl02432
      Location:28180
      CLECT; C-type lectin (CTL)/C-type lectin-like (CTLD) 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_000021.9 Reference GRCh38.p14 Primary Assembly

      Range
      17917340..18267370
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047440682.1XP_047296638.1  chondrolectin isoform X3

    2. XM_011529453.3XP_011527755.1  chondrolectin isoform X2

      Conserved Domains (1) summary
      cl02432
      Location:28180
      CLECT; C-type lectin (CTL)/C-type lectin-like (CTLD) domain
    3. XM_017028273.2XP_016883762.1  chondrolectin isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060945.1 Alternate T2T-CHM13v2.0

      Range
      16276723..16627191
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054324333.1XP_054180308.1  chondrolectin isoform X4

    2. XM_054324332.1XP_054180307.1  chondrolectin isoform X2

    3. XM_054324331.1XP_054180306.1  chondrolectin isoform X1