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SCIN scinderin [ Homo sapiens (human) ]

Gene ID: 85477, updated on 5-Mar-2024

Summary

Official Symbol
SCINprovided by HGNC
Official Full Name
scinderinprovided by HGNC
Primary source
HGNC:HGNC:21695
See related
Ensembl:ENSG00000006747 MIM:613416; AllianceGenome:HGNC:21695
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
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Genomic context

See SCIN in Genome Data Viewer
Location:
7p21.3
Exon count:
17
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (12570720..12660182)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (12701807..12791257)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (12610346..12699807)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375156 Neighboring gene small RNA binding exonuclease protection factor La like 5, pseudogene Neighboring gene Sharpr-MPRA regulatory region 5173 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:12536548-12537176 Neighboring gene chromosome 7 open reading frame 78 Neighboring gene taste 2 receptor member 2, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25664 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr7:12596820-12598019 Neighboring gene uncharacterized LOC107986768 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25665 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:12635263-12636462 Neighboring gene Sharpr-MPRA regulatory region 10361 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:12700000-12700549 Neighboring gene uncharacterized LOC105375157 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr7:12714709-12715908 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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • KIAA1905

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables 1-phosphatidylinositol binding TAS
Traceable Author Statement
more info
PubMed 
enables actin binding ISS
Inferred from Sequence or Structural Similarity
more info
 
enables actin binding TAS
Traceable Author Statement
more info
PubMed 
enables actin filament binding IBA
Inferred from Biological aspect of Ancestor
more info
 
enables actin filament binding ISS
Inferred from Sequence or Structural Similarity
more info
 
enables calcium ion binding ISS
Inferred from Sequence or Structural Similarity
more info
 
enables calcium ion binding TAS
Traceable Author Statement
more info
PubMed 
enables phosphatidylinositol-4,5-bisphosphate binding IBA
Inferred from Biological aspect of Ancestor
more info
 
enables phosphatidylinositol-4,5-bisphosphate binding ISS
Inferred from Sequence or Structural Similarity
more info
 
enables phosphatidylserine binding ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
involved_in actin filament capping IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in actin filament severing IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in actin filament severing IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in actin nucleation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in actin polymerization or depolymerization IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in barbed-end actin filament capping IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in calcium-ion regulated exocytosis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in cell projection assembly IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in central nervous system development IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in negative regulation of cell population proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of actin nucleation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of apoptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of megakaryocyte differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of secretion ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of chondrocyte differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in sequestering of actin monomers IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
is_active_in actin cytoskeleton IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in anchoring junction IEA
Inferred from Electronic Annotation
more info
 
located_in brush border IEA
Inferred from Electronic Annotation
more info
 
located_in cell cortex ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in cell projection IEA
Inferred from Electronic Annotation
more info
 
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in extracellular exosome HDA PubMed 
located_in podosome IEA
Inferred from Electronic Annotation
more info
 

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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_001112706.3NP_001106177.1  scinderin 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)
    AC011891, AK290363, BC021090, CA447429
    Consensus CDS
    CCDS47545.1
    UniProtKB/Swiss-Prot
    A8K2U8, Q8NBZ6, Q8WU97, Q96JC7, Q96PY2, Q9Y6U3
    Related
    ENSP00000297029.5, ENST00000297029.10
    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  scinderin 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/TrEMBL
    Q8NBV9
    Related
    ENSP00000430997.1, ENST00000519209.5
    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_156701.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC011891, AK290363, BC021090, CA447429

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    12570720..12660182
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    12701807..12791257
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)