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HAPLN3 hyaluronan and proteoglycan link protein 3 [ Homo sapiens (human) ]

Gene ID: 145864, updated on 17-Jun-2019

Summary

Official Symbol
HAPLN3provided by HGNC
Official Full Name
hyaluronan and proteoglycan link protein 3provided by HGNC
Primary source
HGNC:HGNC:21446
See related
Ensembl:ENSG00000140511
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
EXLD1; HsT19883
Summary
This gene belongs to the hyaluronan and proteoglycan binding link protein gene family. The protein encoded by this gene may function in hyaluronic acid binding and cell adhesion. [provided by RefSeq, Jul 2008]
Expression
Broad expression in lymph node (RPKM 11.8), appendix (RPKM 10.0) and 20 other tissues See more
Orthologs

Genomic context

See HAPLN3 in Genome Data Viewer
Location:
15q26.1
Exon count:
7
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 15 NC_000015.10 (88877294..88895606, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (89420519..89438857, complement)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene interferon stimulated exonuclease gene 20 Neighboring gene uncharacterized LOC105370960 Neighboring gene aggrecan Neighboring gene milk fat globule-EGF factor 8 protein Neighboring gene keratin 18 pseudogene 47

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 FunctionsWhat's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
hyaluronic acid binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
cell adhesion IEA
Inferred from Electronic Annotation
more info
 
central nervous system development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
skeletal system development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
extracellular matrix IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
extracellular space HDA PubMed 

General protein information

Preferred Names
hyaluronan and proteoglycan link protein 3
Names
extracellular link domain containing, 1
NP_001294881.1
NP_839946.1
XP_011519563.1
XP_016877423.1
XP_016877424.1
XP_016877425.1

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.

mRNA and Protein(s)

  1. NM_001307952.2NP_001294881.1  hyaluronan and proteoglycan link protein 3 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC103982, BC062320
    Consensus CDS
    CCDS76790.1
    UniProtKB/Swiss-Prot
    Q96S86
    UniProtKB/TrEMBL
    A8K7T8, H3BTH8
    Related
    ENSP00000457180.1, ENST00000562889.5
    Conserved Domains (4) summary
    cd05877
    Location:124229
    Ig_LP_like; Immunoglobulin (Ig)-like domain of human cartilage link protein (LP)
    smart00410
    Location:125224
    IG_like; Immunoglobulin like
    cd03518
    Location:228322
    Link_domain_HAPLN_module_1; Link_domain_HAPLN_module_1; this link domain is found in the first link module of proteins similar to the vertebrate HAPLN (hyaluronan/HA and proteoglycan binding link) protein family which includes cartilage link protein. The link domain is a HA-binding ...
    cd03519
    Location:329419
    Link_domain_HAPLN_module_2; Link_domain_HAPLN_module_2; this link domain is found in the second link module of proteins similar to the vertebrate HAPLN (hyaluronan/HA and proteoglycan binding link) protein family which includes cartilage link protein. The link domain is a ...
  2. NM_178232.4NP_839946.1  hyaluronan and proteoglycan link protein 3 isoform 2 precursor

    See identical proteins and their annotated locations for NP_839946.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an exon in the 5' UTR and coding region which results in the use of a dowstream start codon compared to variant 1. The encoded isoform (2) has a shorter N-terminus compared to isoform 1.
    Source sequence(s)
    AK292103, AY262759
    Consensus CDS
    CCDS10346.1
    UniProtKB/Swiss-Prot
    Q96S86
    UniProtKB/TrEMBL
    A0A024RC58, A8K7T8
    Related
    ENSP00000352606.3, ENST00000359595.7
    Conserved Domains (3) summary
    cd05877
    Location:62167
    Ig_LP_like; Immunoglobulin (Ig)-like domain of human cartilage link protein (LP)
    cd03518
    Location:166260
    Link_domain_HAPLN_module_1; Link_domain_HAPLN_module_1; this link domain is found in the first link module of proteins similar to the vertebrate HAPLN (hyaluronan/HA and proteoglycan binding link) protein family which includes cartilage link protein. The link domain is a HA-binding ...
    cd03519
    Location:267357
    Link_domain_HAPLN_module_2; Link_domain_HAPLN_module_2; this link domain is found in the second link module of proteins similar to the vertebrate HAPLN (hyaluronan/HA and proteoglycan binding link) protein family which includes cartilage link protein. The link domain is a ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p13 Primary Assembly

    Range
    88877294..88895606 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017021934.2XP_016877423.1  hyaluronan and proteoglycan link protein 3 isoform X2

  2. XM_017021936.2XP_016877425.1  hyaluronan and proteoglycan link protein 3 isoform X3

  3. XM_017021935.2XP_016877424.1  hyaluronan and proteoglycan link protein 3 isoform X3

  4. XM_011521261.1XP_011519563.1  hyaluronan and proteoglycan link protein 3 isoform X1

    Conserved Domains (4) summary
    cd05877
    Location:106211
    Ig_LP_like; Immunoglobulin (Ig)-like domain of human cartilage link protein (LP)
    smart00410
    Location:107206
    IG_like; Immunoglobulin like
    cd03518
    Location:210304
    Link_domain_HAPLN_module_1; Link_domain_HAPLN_module_1; this link domain is found in the first link module of proteins similar to the vertebrate HAPLN (hyaluronan/HA and proteoglycan binding link) protein family which includes cartilage link protein. The link domain is a HA-binding ...
    cd03519
    Location:311401
    Link_domain_HAPLN_module_2; Link_domain_HAPLN_module_2; this link domain is found in the second link module of proteins similar to the vertebrate HAPLN (hyaluronan/HA and proteoglycan binding link) protein family which includes cartilage link protein. The link domain is a ...

RNA

  1. XR_931756.3 RNA Sequence

    Related
    ENST00000558770.5
  2. XR_001751098.2 RNA Sequence

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