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SMTNL1 smoothelin like 1 [ Homo sapiens (human) ]

Gene ID: 219537, updated on 2-Oct-2018

Summary

Official Symbol
SMTNL1provided by HGNC
Official Full Name
smoothelin like 1provided by HGNC
Primary source
HGNC:HGNC:32394
See related
Ensembl:ENSG00000214872 MIM:613664; Vega:OTTHUMG00000167046
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
CHASM
Summary
The protein encoded by this gene is involved in the contraction of both striated and smooth muscle. During pregnancy, the encoded protein interacts with progesterone receptor to attenuate the expression of contractile and metabolic proteins. [provided by RefSeq, Jul 2016]
Expression
Biased expression in esophagus (RPKM 3.0), prostate (RPKM 1.5) and 7 other tissues See more
Orthologs

Genomic context

See SMTNL1 in Genome Data Viewer
Location:
11q12.1
Exon count:
8
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 11 NC_000011.10 (57536841..57550274)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (57305044..57317747)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene solute carrier family 43 member 1 Neighboring gene RNA, 7SL, cytoplasmic 605, pseudogene Neighboring gene translocase of inner mitochondrial membrane 10 Neighboring gene ubiquitin conjugating enzyme E2 L6 Neighboring gene ribosomal protein S4X pseudogene 13

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 Jun 15 11:32:44 2016

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
calmodulin binding IEA
Inferred from Electronic Annotation
more info
 
protein phosphatase 1 binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
tropomyosin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
actin cytoskeleton organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of blood vessel diameter ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of vasoconstriction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of vasoconstriction ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
I band IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
M band IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
contractile fiber IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
contractile fiber IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
 
filamentous actin IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
microtubule organizing center IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
smoothelin-like protein 1
Names
calponin homology-associated smooth muscle 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.

mRNA and Protein(s)

  1. NM_001105565.2NP_001099035.2  smoothelin-like protein 1

    See identical proteins and their annotated locations for NP_001099035.2

    Status: REVIEWED

    Source sequence(s)
    AP002893
    Consensus CDS
    CCDS44599.2
    UniProtKB/TrEMBL
    E9PPJ3
    Related
    ENSP00000432651.1, OTTHUMP00000235021, ENST00000527972.5, OTTHUMT00000392654
    Conserved Domains (2) summary
    cd00014
    Location:381481
    CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
    pfam06459
    Location:44198
    RR_TM4-6; Ryanodine Receptor TM 4-6

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.p12 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p12 Primary Assembly

    Range
    57536841..57550274
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005273819.4XP_005273876.1  smoothelin-like protein 1 isoform X1

    See identical proteins and their annotated locations for XP_005273876.1

    UniProtKB/TrEMBL
    E9PPJ3
    Conserved Domains (2) summary
    cd00014
    Location:381481
    CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
    pfam06459
    Location:44198
    RR_TM4-6; Ryanodine Receptor TM 4-6
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