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UNC13D unc-13 homolog D [ Homo sapiens (human) ]

Gene ID: 201294, updated on 26-May-2016
Official Symbol
UNC13Dprovided by HGNC
Official Full Name
unc-13 homolog Dprovided by HGNC
Primary source
HGNC:HGNC:23147
See related
Ensembl:ENSG00000092929 HPRD:10598; MIM:608897; Vega:OTTHUMG00000179895
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
FHL3; HLH3; HPLH3; Munc13-4
Summary
This gene encodes a protein that is a member of the UNC13 family, containing similar domain structure as other family members but lacking an N-terminal phorbol ester-binding C1 domain present in other Munc13 proteins. The protein appears to play a role in vesicle maturation during exocytosis and is involved in regulation of cytolytic granules secretion. Mutations in this gene are associated with familial hemophagocytic lymphohistiocytosis type 3, a genetically heterogeneous, rare autosomal recessive disorder. [provided by RefSeq, Jul 2008]
Orthologs
Location:
17q25.1
Exon count:
33
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 17 NC_000017.11 (75827225..75844717, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (73823306..73840798, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene microRNA 4738 Neighboring gene unkempt family zinc finger Neighboring gene uncharacterized LOC100507191 Neighboring gene WW domain binding protein 2 Neighboring gene tripartite motif containing 47

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
Rab GTPase binding IDA
Inferred from Direct Assay
more info
PubMed 
Rab GTPase binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
defense response to virus IEA
Inferred from Electronic Annotation
more info
 
germinal center formation IEA
Inferred from Electronic Annotation
more info
 
granuloma formation IEA
Inferred from Electronic Annotation
more info
 
natural killer cell degranulation IEA
Inferred from Electronic Annotation
more info
 
phagocytosis IEA
Inferred from Electronic Annotation
more info
 
positive regulation of exocytosis IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of regulated secretory pathway IGI
Inferred from Genetic Interaction
more info
PubMed 
positive regulation of substrate adhesion-dependent cell spreading IEA
Inferred from Electronic Annotation
more info
 
regulation of mast cell degranulation IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
Weibel-Palade body IDA
Inferred from Direct Assay
more info
PubMed 
exocytic vesicle IDA
Inferred from Direct Assay
more info
PubMed 
late endosome IEA
Inferred from Electronic Annotation
more info
 
lysosome IDA
Inferred from Direct Assay
more info
PubMed 
membrane IEA
Inferred from Electronic Annotation
more info
 
recycling endosome IEA
Inferred from Electronic Annotation
more info
 

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_007266.1 RefSeqGene

    Range
    5001..22493
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_122

mRNA and Protein(s)

  1. NM_199242.2NP_954712.1  protein unc-13 homolog D

    See identical proteins and their annotated locations for NP_954712.1

    Status: REVIEWED

    Source sequence(s)
    AW451853, BC067084
    Consensus CDS
    CCDS11730.1
    UniProtKB/Swiss-Prot
    Q70J99
    Related
    ENSP00000207549, OTTHUMP00000262907, ENST00000207549, OTTHUMT00000448847
    Conserved Domains (3) summary
    cd04009
    Location:9101039
    C2B_Munc13-like; C2 domain second repeat in Munc13 (mammalian uncoordinated)-like proteins
    cd08676
    Location:84263
    C2A_Munc13-like; C2 domain first repeat in Munc13 (mammalian uncoordinated)-like proteins
    pfam10540
    Location:788895
    Membr_traf_MHD; Munc13 (mammalian uncoordinated) homology domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p2 Primary Assembly

    Range
    75827225..75844717 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011524507.1XP_011522809.1  

    See identical proteins and their annotated locations for XP_011522809.1

    Conserved Domains (3) summary
    cd04009
    Location:730859
    C2B_Munc13-like; C2 domain second repeat in Munc13 (mammalian uncoordinated)-like proteins
    pfam10540
    Location:585715
    Membr_traf_MHD; Munc13 (mammalian uncoordinated) homology domain
    cl14603
    Location:3760
    C2; C2 domain
  2. XM_011524506.1XP_011522808.1  

    Conserved Domains (3) summary
    cd04009
    Location:9321061
    C2B_Munc13-like; C2 domain second repeat in Munc13 (mammalian uncoordinated)-like proteins
    cd08676
    Location:84263
    C2A_Munc13-like; C2 domain first repeat in Munc13 (mammalian uncoordinated)-like proteins
    pfam10540
    Location:787917
    Membr_traf_MHD; Munc13 (mammalian uncoordinated) homology domain
  3. XM_011524505.1XP_011522807.1  

    See identical proteins and their annotated locations for XP_011522807.1

    Related
    ENSP00000388093, OTTHUMP00000262908, ENST00000412096, OTTHUMT00000448848
    Conserved Domains (3) summary
    cd04009
    Location:9331062
    C2B_Munc13-like; C2 domain second repeat in Munc13 (mammalian uncoordinated)-like proteins
    cd08676
    Location:84263
    C2A_Munc13-like; C2 domain first repeat in Munc13 (mammalian uncoordinated)-like proteins
    pfam10540
    Location:788918
    Membr_traf_MHD; Munc13 (mammalian uncoordinated) homology domain
  4. XM_011524504.1XP_011522806.1  

    See identical proteins and their annotated locations for XP_011522806.1

    Conserved Domains (3) summary
    cd04009
    Location:9331062
    C2B_Munc13-like; C2 domain second repeat in Munc13 (mammalian uncoordinated)-like proteins
    cd08676
    Location:84263
    C2A_Munc13-like; C2 domain first repeat in Munc13 (mammalian uncoordinated)-like proteins
    pfam10540
    Location:788918
    Membr_traf_MHD; Munc13 (mammalian uncoordinated) homology domain
  5. XM_011524508.1XP_011522810.1  

    See identical proteins and their annotated locations for XP_011522810.1

    Conserved Domains (3) summary
    cd04009
    Location:730859
    C2B_Munc13-like; C2 domain second repeat in Munc13 (mammalian uncoordinated)-like proteins
    pfam10540
    Location:585715
    Membr_traf_MHD; Munc13 (mammalian uncoordinated) homology domain
    cl14603
    Location:3760
    C2; C2 domain

Alternate CHM1_1.1

Genomic

  1. NC_018928.2 Alternate CHM1_1.1

    Range
    73888239..73905757 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)