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THSD4 thrombospondin type 1 domain containing 4 [ Homo sapiens (human) ]

Gene ID: 79875, updated on 7-Aug-2021

Summary

Official Symbol
THSD4provided by HGNC
Official Full Name
thrombospondin type 1 domain containing 4provided by HGNC
Primary source
HGNC:HGNC:25835
See related
Ensembl:ENSG00000187720 MIM:614476
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ADAMTSL6; FVSY9334; PRO34005; ADAMTSL-6
Expression
Broad expression in esophagus (RPKM 9.7), prostate (RPKM 9.0) and 20 other tissues See more
Orthologs
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Genomic context

See THSD4 in Genome Data Viewer
Location:
15q23
Exon count:
25
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 15 NC_000015.10 (71096894..71783383)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (71433788..72075722)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105370886 Neighboring gene ribosomal protein L5 pseudogene 3 Neighboring gene THSD4 antisense RNA 1 Neighboring gene cancer/testis associated 62 Neighboring gene high mobility group box 1 pseudogene 6 Neighboring gene uncharacterized LOC105370884 Neighboring gene ribosomal protein L17 pseudogene 39 Neighboring gene uncharacterized LOC107984716 Neighboring gene THSD4 antisense RNA 2 Neighboring gene RNA, 5S ribosomal pseudogene 399 Neighboring gene nuclear receptor subfamily 2 group E member 3 Neighboring gene myosin IXA

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 Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.
GeneReviews: Not available
Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans.
GeneReviews: Not available
Genome-wide association studies identify CHRNA5/3 and HTR4 in the development of airflow obstruction.
GeneReviews: Not available
Genome-wide association study identifies five loci associated with lung function.
GeneReviews: Not available
Genome-wide association study of chronic periodontitis in a general German population.
GeneReviews: Not available
Genome-wide association study of lung function phenotypes in a founder population.
GeneReviews: Not available
Genome-wide association study on dimethylarginines reveals novel AGXT2 variants associated with heart rate variability but not with overall mortality.
GeneReviews: Not available
Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ13710, FLJ16791, FLJ20575, FLJ27224, FLJ53165, FLJ54862, MGC176545, DKFZp586J1522, DKFZp686A1457, DKFZp686K0468, DKFZp686I18125

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables extracellular matrix structural constituent RCA
inferred from Reviewed Computational Analysis
more info
PubMed 
enables hydrolase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
involved_in elastic fiber assembly IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
thrombospondin type-1 domain-containing protein 4
Names
A disintegrin and metalloproteinase with thrombospondin motifs-like protein 6
ADAMTS-like protein 6
thrombospondin, type I, domain containing 4

NCBI Reference Sequences (RefSeq)

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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_001286429.2NP_001273358.1  thrombospondin type-1 domain-containing protein 4 isoform 2 precursor

    See identical proteins and their annotated locations for NP_001273358.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and lacks multiple 5' coding exons, compared to variant 1. It represents use of an alternate promoter and initiates translation from an alternate start codon. The encoded isoform (2) has a distinct N-terminus and is shorter than isoform 1.
    Source sequence(s)
    AC104938, AK299056
    Consensus CDS
    CCDS66817.1
    UniProtKB/Swiss-Prot
    Q6ZMP0
    Related
    ENSP00000350413.4, ENST00000357769.4
    Conserved Domains (4) summary
    smart00209
    Location:376433
    TSP1; Thrombospondin type 1 repeats
    pfam05986
    Location:52168
    ADAM_spacer1; ADAM-TS Spacer 1
    pfam08686
    Location:615645
    PLAC; PLAC (protease and lacunin) domain
    pfam16885
    Location:179255
    CAC1F_C; Voltage-gated calcium channel subunit alpha, C-term
  2. NM_001394532.1NP_001381461.1  thrombospondin type-1 domain-containing protein 4 isoform 1 precursor

    Status: VALIDATED

    Source sequence(s)
    AC015711, AC026636, AC068181, AC104938, AC104943, AC105132
    Conserved Domains (4) summary
    smart00209
    Location:5895
    TSP1; Thrombospondin type 1 repeats
    pfam05986
    Location:412528
    ADAM_spacer1; ADAM-TS Spacer 1
    pfam08686
    Location:9751005
    PLAC; PLAC (protease and lacunin) domain
    pfam19030
    Location:856912
    TSP1_ADAMTS; Thrombospondin type 1 domain
  3. NM_024817.3NP_079093.2  thrombospondin type-1 domain-containing protein 4 isoform 1 precursor

    See identical proteins and their annotated locations for NP_079093.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC015711, AC026636, AC068181, AC104938, AC104943, AC105132
    Consensus CDS
    CCDS10238.2
    UniProtKB/Swiss-Prot
    Q6ZMP0
    Related
    ENSP00000347484.3, ENST00000355327.7
    Conserved Domains (4) summary
    smart00209
    Location:5895
    TSP1; Thrombospondin type 1 repeats
    pfam05986
    Location:412528
    ADAM_spacer1; ADAM-TS Spacer 1
    pfam08686
    Location:9751005
    PLAC; PLAC (protease and lacunin) domain
    pfam19030
    Location:856912
    TSP1_ADAMTS; Thrombospondin type 1 domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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
    71096894..71783383
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017022582.2XP_016878071.1  thrombospondin type-1 domain-containing protein 4 isoform X2

  2. XM_017022585.1XP_016878074.1  thrombospondin type-1 domain-containing protein 4 isoform X7

  3. XM_017022583.1XP_016878072.1  thrombospondin type-1 domain-containing protein 4 isoform X4

  4. XM_011522044.2XP_011520346.1  thrombospondin type-1 domain-containing protein 4 isoform X5

    Conserved Domains (4) summary
    smart00209
    Location:400457
    TSP1; Thrombospondin type 1 repeats
    pfam05986
    Location:76192
    ADAM_spacer1; ADAM-TS Spacer 1
    pfam08686
    Location:639669
    PLAC; PLAC (protease and lacunin) domain
    pfam16885
    Location:203279
    CAC1F_C; Voltage-gated calcium channel subunit alpha, C-term
  5. XM_017022586.1XP_016878075.1  thrombospondin type-1 domain-containing protein 4 isoform X8

  6. XM_017022584.1XP_016878073.1  thrombospondin type-1 domain-containing protein 4 isoform X6

  7. XM_011522043.3XP_011520345.1  thrombospondin type-1 domain-containing protein 4 isoform X3

    Conserved Domains (4) summary
    smart00209
    Location:414471
    TSP1; Thrombospondin type 1 repeats
    pfam05986
    Location:90206
    ADAM_spacer1; ADAM-TS Spacer 1
    pfam08686
    Location:653683
    PLAC; PLAC (protease and lacunin) domain
    pfam16885
    Location:217293
    CAC1F_C; Voltage-gated calcium channel subunit alpha, C-term
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