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TLL1 tolloid like 1 [ Homo sapiens (human) ]

Gene ID: 7092, updated on 5-Aug-2022

Summary

Official Symbol
TLL1provided by HGNC
Official Full Name
tolloid like 1provided by HGNC
Primary source
HGNC:HGNC:11843
See related
Ensembl:ENSG00000038295 MIM:606742; AllianceGenome:HGNC:11843
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
TLL; ASD6
Summary
This gene encodes an astacin-like, zinc-dependent, metalloprotease that belongs to the peptidase M12A family. This protease processes procollagen C-propeptides, such as chordin, pro-biglycan and pro-lysyl oxidase. Studies in mice suggest that this gene plays multiple roles in the development of mammalian heart, and is essential for the formation of the interventricular septum. Allelic variants of this gene are associated with atrial septal defect type 6. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011]
Expression
Broad expression in placenta (RPKM 2.3), gall bladder (RPKM 1.2) and 21 other tissues See more
Orthologs
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Genomic context

See TLL1 in Genome Data Viewer
Location:
4q32.3
Exon count:
22
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (165873237..166104457)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (169219854..169450476)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (166794389..167025609)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 1179 Neighboring gene uncharacterized LOC101928131 Neighboring gene uncharacterized LOC105377521 Neighboring gene Sharpr-MPRA regulatory region 2915 Neighboring gene RNA, 5S ribosomal pseudogene 170 Neighboring gene Sharpr-MPRA regulatory region 13283 Neighboring gene Sharpr-MPRA regulatory region 523

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
Atrial septal defect 6
MedGen: C2751315 OMIM: 613087 GeneReviews: Not available
Compare labs

EBI GWAS Catalog

Description
A genome-wide association study of brain lesion distribution in multiple sclerosis.
EBI GWAS Catalog
Genome-wide association study identifies new susceptibility loci for posttraumatic stress disorder.
EBI GWAS Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
EBI GWAS Catalog

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
capsid gag Depletion of the TLL1 expression upregulates HIV-1 CA A92E mutant infectivity in CsA-untreated HeLa cells and downregulates its infectivity in CsA-treated HeLa cells PubMed

Go to the HIV-1, Human Interaction Database

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
enables metalloendopeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables metalloendopeptidase activity TAS
Traceable Author Statement
more info
 
enables serine-type endopeptidase activity TAS
Traceable Author Statement
more info
 
enables zinc ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
involved_in cell differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in collagen fibril organization TAS
Traceable Author Statement
more info
 
involved_in dorsal/ventral pattern formation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in protein processing IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in skeletal system development TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
located_in extracellular region TAS
Traceable Author Statement
more info
 
is_active_in extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
tolloid-like protein 1
NP_001191689.1
NP_036596.3

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.

Genomic

  1. NG_016278.2 RefSeqGene

    Range
    4980..236200
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001204760.2NP_001191689.1  tolloid-like protein 1 isoform 2 precursor

    See identical proteins and their annotated locations for NP_001191689.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) is missing many exons from the 3' end, and contains a novel 3' terminal exon compared to variant 1. This results in a frame-shift, and a much shorter isoform (2) with a distinct C-terminus compared to isoform 1. This isoform lacks experimental support.
    Source sequence(s)
    AC097502, BC016922, U91963
    Consensus CDS
    CCDS56342.1
    UniProtKB/Swiss-Prot
    O43897
    Related
    ENSP00000422937.1, ENST00000513213.5
    Conserved Domains (2) summary
    cd04281
    Location:148347
    ZnMc_BMP1_TLD; Zinc-dependent metalloprotease; BMP1/TLD-like subfamily. BMP1 (Bone morphogenetic protein 1) and TLD (tolloid)-like metalloproteases play vital roles in extracellular matrix formation, by cleaving precursor proteins such as enzymes, structural proteins, ...
    cl00049
    Location:349390
    CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
  2. NM_012464.5NP_036596.3  tolloid-like protein 1 isoform 1 precursor

    See identical proteins and their annotated locations for NP_036596.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AC093874, AC097502, AC097507, AF282732, AK021908, BC144085, BU753788, U91963
    Consensus CDS
    CCDS3811.1
    UniProtKB/Swiss-Prot
    O43897, Q9NQS4
    UniProtKB/TrEMBL
    B7ZLW3
    Related
    ENSP00000061240.2, ENST00000061240.7
    Conserved Domains (4) summary
    cd04281
    Location:148347
    ZnMc_BMP1_TLD; Zinc-dependent metalloprotease; BMP1/TLD-like subfamily. BMP1 (Bone morphogenetic protein 1) and TLD (tolloid)-like metalloproteases play vital roles in extracellular matrix formation, by cleaving precursor proteins such as enzymes, structural proteins, ...
    pfam00431
    Location:462571
    CUB; CUB domain
    pfam01400
    Location:155348
    Astacin; Astacin (Peptidase family M12A)
    pfam14670
    Location:734769
    FXa_inhibition; Coagulation Factor Xa inhibitory site

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    165873237..166104457
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    169219854..169450476
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)