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CHODL chondrolectin [ Homo sapiens (human) ]

Gene ID: 140578, updated on 7-Jun-2020

Summary

Official Symbol
CHODLprovided by HGNC
Official Full Name
chondrolectinprovided by HGNC
Primary source
HGNC:HGNC:17807
See related
Ensembl:ENSG00000154645 MIM:607247
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

Genomic context

See CHODL in Genome Data Viewer
Location:
21q21.1
Exon count:
10
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 21 NC_000021.9 (17819329..18267371)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (19400190..19639687)

Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372741 Neighboring gene C21orf91 overlapping transcript 1 Neighboring gene chromosome 21 open reading frame 91 Neighboring gene CHODL antisense RNA 1 Neighboring gene ribosomal protein L37 pseudogene 3 Neighboring gene uncharacterized LOC107987296 Neighboring gene transmembrane serine protease 15 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

NHGRI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Homology

Clone Names

  • FLJ12627

Gene Ontology Provided by GOA

Function Evidence Code Pubs
carbohydrate binding IEA
Inferred from Electronic Annotation
more info
 
NOT hyaluronic acid binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
muscle organ development NAS
Non-traceable Author Statement
more info
PubMed 
positive regulation of axonogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
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)

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_029478.1 RefSeqGene

    Range
    5001..355031
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001204174.1NP_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_001204175.1NP_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_001204176.1NP_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_001204177.1NP_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/Swiss-Prot
    Q9H9P2
    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_001204178.1NP_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/Swiss-Prot
    Q9H9P2
    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
    Q9H9P2
    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: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000021.9 Reference GRCh38.p13 Primary Assembly

    Range
    17819329..18267371
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011529457.2XP_011527759.1  chondrolectin isoform X3

    See identical proteins and their annotated locations for XP_011527759.1

    UniProtKB/Swiss-Prot
    Q9H9P2
    Conserved Domains (1) summary
    cl02432
    Location:1139
    CLECT; C-type lectin (CTL)/C-type lectin-like (CTLD) domain
  2. XM_011529453.2XP_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_017028273.1XP_016883762.1  chondrolectin isoform X1

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