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SCIN scinderin [ Homo sapiens (human) ]

Gene ID: 85477, updated on 5-Aug-2018

Summary

Official Symbol
SCINprovided by HGNC
Official Full Name
scinderinprovided by HGNC
Primary source
HGNC:HGNC:21695
See related
Ensembl:ENSG00000006747 MIM:613416; Vega:OTTHUMG00000152385
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
Summary
SCIN is a Ca(2+)-dependent actin-severing and -capping protein (Zunino et al., 2001 [PubMed 11568009]).[supplied by OMIM, May 2010]
Expression
Biased expression in small intestine (RPKM 29.7), kidney (RPKM 29.3) and 11 other tissues See more
Orthologs

Genomic context

See SCIN in Genome Data Viewer
Location:
7p21.3
Exon count:
18
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 7 NC_000007.14 (12570363..12653603)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (12609989..12693228)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375156 Neighboring gene uncharacterized LOC102725191 Neighboring gene taste 2 receptor member 2, pseudogene Neighboring gene uncharacterized LOC107986769 Neighboring gene uncharacterized LOC107986768 Neighboring gene uncharacterized LOC105375157 Neighboring gene apoptosis-inducing, TAF9-like domain 1 pseudogene

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?

Pathways from BioSystems

  • Endochondral Ossification, organism-specific biosystem (from WikiPathways)
    Endochondral Ossification, organism-specific biosystemEndochondral ossification is the process by which the embryonic cartilaginous model of most bones contributes to longitudinal growth and is gradually replaced by bone. During endochondral ossificatio...
  • Fc gamma R-mediated phagocytosis, organism-specific biosystem (from KEGG)
    Fc gamma R-mediated phagocytosis, organism-specific biosystemPhagocytosis plays an essential role in host-defense mechanisms through the uptake and destruction of infectious pathogens. Specialized cell types including macrophages, neutrophils, and monocytes ta...
  • Fc gamma R-mediated phagocytosis, conserved biosystem (from KEGG)
    Fc gamma R-mediated phagocytosis, conserved biosystemPhagocytosis plays an essential role in host-defense mechanisms through the uptake and destruction of infectious pathogens. Specialized cell types including macrophages, neutrophils, and monocytes ta...
  • Regulation of actin cytoskeleton, organism-specific biosystem (from KEGG)
    Regulation of actin cytoskeleton, organism-specific biosystem
    Regulation of actin cytoskeleton
  • Regulation of actin cytoskeleton, conserved biosystem (from KEGG)
    Regulation of actin cytoskeleton, conserved biosystem
    Regulation of actin cytoskeleton
  • Viral carcinogenesis, organism-specific biosystem (from KEGG)
    Viral carcinogenesis, organism-specific biosystemThere is a strong association between viruses and the development of human malignancies. We now know that at least six human viruses, Epstein-Barr virus (EBV), hepatitis B virus (HBV), hepatitis C vi...
  • Viral carcinogenesis, conserved biosystem (from KEGG)
    Viral carcinogenesis, conserved biosystemThere is a strong association between viruses and the development of human malignancies. We now know that at least six human viruses, Epstein-Barr virus (EBV), hepatitis B virus (HBV), hepatitis C vi...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA1905

Gene Ontology Provided by GOA

Function Evidence Code Pubs
1-phosphatidylinositol binding TAS
Traceable Author Statement
more info
PubMed 
actin binding ISS
Inferred from Sequence or Structural Similarity
more info
 
actin binding TAS
Traceable Author Statement
more info
PubMed 
actin filament binding ISS
Inferred from Sequence or Structural Similarity
more info
 
calcium ion binding ISS
Inferred from Sequence or Structural Similarity
more info
 
calcium ion binding TAS
Traceable Author Statement
more info
PubMed 
phosphatidylinositol-4,5-bisphosphate binding ISS
Inferred from Sequence or Structural Similarity
more info
 
phosphatidylserine binding ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
actin filament capping IMP
Inferred from Mutant Phenotype
more info
PubMed 
actin filament severing IMP
Inferred from Mutant Phenotype
more info
PubMed 
actin nucleation ISS
Inferred from Sequence or Structural Similarity
more info
 
calcium ion regulated exocytosis ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of cell proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of actin nucleation IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of apoptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of megakaryocyte differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of secretion ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of chondrocyte differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
sequestering of actin monomers IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
brush border IEA
Inferred from Electronic Annotation
more info
 
cell cortex ISS
Inferred from Sequence or Structural Similarity
more info
 
cell junction IEA
Inferred from Electronic Annotation
more info
 
cell projection IEA
Inferred from Electronic Annotation
more info
 
cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
 
extracellular exosome HDA PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
 
podosome IEA
Inferred from Electronic Annotation
more info
 

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_001112706.2NP_001106177.1  adseverin isoform 1

    See identical proteins and their annotated locations for NP_001106177.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AB067492, AK290363, BC021090, CA447429
    Consensus CDS
    CCDS47545.1
    UniProtKB/Swiss-Prot
    Q9Y6U3
    Related
    ENSP00000297029.5, OTTHUMP00000201578, ENST00000297029.9, OTTHUMT00000326041
    Conserved Domains (6) summary
    cd11288
    Location:508598
    gelsolin_S5_like; Gelsolin sub-domain 5-like domain found in gelsolin, severin, villin, and related proteins
    cd11289
    Location:136225
    gelsolin_S2_like; Gelsolin sub-domain 2-like domain found in gelsolin, severin, villin, and related proteins
    cd11290
    Location:10121
    gelsolin_S1_like; Gelsolin sub-domain 1-like domain found in gelsolin, severin, villin, and related proteins
    cd11291
    Location:613711
    gelsolin_S6_like; Gelsolin sub-domain 6-like domain found in gelsolin, severin, villin, and related proteins
    cd11292
    Location:246346
    gelsolin_S3_like; Gelsolin sub-domain 3-like domain found in gelsolin, severin, villin, and related proteins
    cd11293
    Location:390486
    gelsolin_S4_like; Gelsolin sub-domain 4-like domain found in gelsolin, severin, villin, and related proteins
  2. NM_033128.3NP_149119.1  adseverin isoform 2

    See identical proteins and their annotated locations for NP_149119.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks three exons and includes an alternate exon in the 5' end resulting in use of a downstream start codon, compared to variant 1. It encodes isoform 2, which is shorter than isoform 1.
    Source sequence(s)
    AK027778, CA447429
    Consensus CDS
    CCDS47546.1
    UniProtKB/Swiss-Prot
    Q9Y6U3
    Related
    ENSP00000430997.1, OTTHUMP00000225142, ENST00000519209.5, OTTHUMT00000375936
    Conserved Domains (4) summary
    cd11288
    Location:261351
    gelsolin_S5_like; Gelsolin sub-domain 5-like domain found in gelsolin, severin, villin, and related proteins
    cd11291
    Location:366464
    gelsolin_S6_like; Gelsolin sub-domain 6-like domain found in gelsolin, severin, villin, and related proteins
    cd11292
    Location:199
    gelsolin_S3_like; Gelsolin sub-domain 3-like domain found in gelsolin, severin, villin, and related proteins
    cd11293
    Location:143239
    gelsolin_S4_like; Gelsolin sub-domain 4-like domain found in gelsolin, severin, villin, and related proteins

RNA

  1. NR_156701.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AB067492, AK290363, BC021090, CA447429

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_000007.14 Reference GRCh38.p12 Primary Assembly

    Range
    12570363..12653603
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024446980.1XP_024302748.1  adseverin isoform X1

    Conserved Domains (5) summary
    cd11288
    Location:349439
    gelsolin_S5_like; Gelsolin sub-domain 5-like domain found in gelsolin, severin, villin, and related proteins
    cd11291
    Location:454552
    gelsolin_S6_like; Gelsolin sub-domain 6-like domain found in gelsolin, severin, villin, and related proteins
    cd11292
    Location:87187
    gelsolin_S3_like; Gelsolin sub-domain 3-like domain found in gelsolin, severin, villin, and related proteins
    cd11293
    Location:231327
    gelsolin_S4_like; Gelsolin sub-domain 4-like domain found in gelsolin, severin, villin, and related proteins
    cl15697
    Location:1366
    ADF_gelsolin; Actin depolymerization factor/cofilin- and gelsolin-like domains

RNA

  1. XR_926951.2 RNA Sequence

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