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HABP2 hyaluronan binding protein 2 [ Homo sapiens (human) ]

Gene ID: 3026, updated on 15-Apr-2019

Summary

Official Symbol
HABP2provided by HGNC
Official Full Name
hyaluronan binding protein 2provided by HGNC
Primary source
HGNC:HGNC:4798
See related
Ensembl:ENSG00000148702 MIM:603924
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
FSAP; HABP; PHBP; HGFAL; NMTC5
Summary
This gene encodes a member of the peptidase S1 family of serine proteases. The encoded preproprotein is secreted by hepatocytes and proteolytically processed to generate heavy and light chains that form the mature heterodimer. Further autoproteolysis leads to smaller, inactive peptides. This extracellular protease binds hyaluronic acid and may play a role in the coagulation and fibrinolysis systems. Mutations in this gene are associated with nonmedullary thyroid cancer and susceptibility to venous thromboembolism. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. [provided by RefSeq, Jan 2016]
Expression
Biased expression in liver (RPKM 158.0), gall bladder (RPKM 23.3) and 1 other tissue See more
Orthologs

Genomic context

See HABP2 in Genome Data Viewer
Location:
10q25.3
Exon count:
14
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 10 NC_000010.11 (113550831..113589602)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (115310590..115349361)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107984269 Neighboring gene uncharacterized LOC107984270 Neighboring gene nebulin related anchoring protein Neighboring gene caspase 7 Neighboring gene pleckstrin homology domain containing S1 Neighboring gene microRNA 4483

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
calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
glycosaminoglycan binding TAS
Traceable Author Statement
more info
PubMed 
serine-type endopeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
cell adhesion TAS
Traceable Author Statement
more info
PubMed 
proteolysis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
extracellular region NAS
Non-traceable Author Statement
more info
PubMed 
extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
hyaluronan-binding protein 2
Names
factor VII activating protein
factor VII-activating protease
factor seven-activating protease
hepatocyte growth factor activator-like protein
hyaluronic acid binding protein 2
plasma hyaluronan binding protein

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_008956.1 RefSeqGene

    Range
    4960..41584
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001177660.2NP_001171131.1  hyaluronan-binding protein 2 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1.
    Source sequence(s)
    AA484932, AI373912, AK303948, AL390197, D49742
    Consensus CDS
    CCDS53579.1
    UniProtKB/Swiss-Prot
    Q14520
    Related
    ENSP00000443283.1, ENST00000542051.5
    Conserved Domains (4) summary
    smart00020
    Location:287524
    Tryp_SPc; Trypsin-like serine protease
    cd00108
    Location:165251
    KR; Kringle domain; Kringle domains are believed to play a role in binding mediators, such as peptides, other proteins, membranes, or phospholipids. They are autonomous structural domains, found in a varying number of copies, in blood clotting and ...
    cd00190
    Location:288527
    Tryp_SPc; Trypsin-like serine protease; Many of these are synthesized as inactive precursor zymogens that are cleaved during limited proteolysis to generate their active forms. Alignment contains also inactive enzymes that have substitutions of the catalytic triad ...
    pfam00008
    Location:5180
    EGF; EGF-like domain
  2. NM_004132.5NP_004123.1  hyaluronan-binding protein 2 isoform 1 preproprotein

    See identical proteins and their annotated locations for NP_004123.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AA484932, AI373912, AL390197, D49742, DC413026
    Consensus CDS
    CCDS7577.1
    UniProtKB/Swiss-Prot
    Q14520
    Related
    ENSP00000277903.4, ENST00000351270.4
    Conserved Domains (3) summary
    cd00108
    Location:191277
    KR; Kringle domain; Kringle domains are believed to play a role in binding mediators, such as peptides, other proteins, membranes, or phospholipids. They are autonomous structural domains, found in a varying number of copies, in blood clotting and ...
    cd00190
    Location:314553
    Tryp_SPc; Trypsin-like serine protease; Many of these are synthesized as inactive precursor zymogens that are cleaved during limited proteolysis to generate their active forms. Alignment contains also inactive enzymes that have substitutions of the catalytic triad ...
    pfam00008
    Location:77106
    EGF; EGF-like domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p12 Primary Assembly

    Range
    113550831..113589602
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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