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SASH1 SAM and SH3 domain containing 1 [ Homo sapiens (human) ]

Gene ID: 23328, updated on 28-Aug-2018

Summary

Official Symbol
SASH1provided by HGNC
Official Full Name
SAM and SH3 domain containing 1provided by HGNC
Primary source
HGNC:HGNC:19182
See related
Ensembl:ENSG00000111961 MIM:607955; Vega:OTTHUMG00000015773
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
SH3D6A; dJ323M4.1
Summary
This gene encodes a scaffold protein involved in the TLR4 signaling pathway that may stimulate cytokine production and endothelial cell migration in response to invading pathogens. The encoded protein has also been described as a potential tumor suppressor that may negatively regulate proliferation, apoptosis, and invasion of cancer cells, and reduced expression of this gene has been observed in multiple human cancers. Mutations in this gene may be associated with abnormal skin pigmentation in human patients. [provided by RefSeq, Oct 2016]
Expression
Broad expression in esophagus (RPKM 20.2), fat (RPKM 19.4) and 23 other tissues See more
Orthologs

Genomic context

See SASH1 in Genome Data Viewer
Location:
6q24.3-q25.1
Exon count:
26
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 6 NC_000006.12 (148193440..148552050)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (148663729..148873185)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378043 Neighboring gene sterile alpha motif domain containing 5 Neighboring gene uncharacterized LOC105378044 Neighboring gene RNA, U6 small nuclear 1222, pseudogene Neighboring gene cytochrome P450 family 51 subfamily A member 1 pseudogene 3 Neighboring gene meiotic recombination hotspot D Neighboring gene small nuclear ribonucleoprotein polypeptide E pseudogene 6

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?

Phenotypes

NHGRI GWAS Catalog

Description
A genome-wide association study for diabetic nephropathy genes in African Americans.
NHGRI GWA Catalog
A genome-wide association study identifies protein quantitative trait loci (pQTLs).
NHGRI GWA Catalog
A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function.
NHGRI GWA Catalog
Common genetic variation and the control of HIV-1 in humans.
NHGRI GWA Catalog
Genome-wide association study of smoking behaviours among Bangladeshi adults.
NHGRI GWA Catalog
Genome-wide scan of copy number variation in late-onset Alzheimer's disease.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA0790

Gene Ontology Provided by GOA

Function Evidence Code Pubs
mitogen-activated protein kinase kinase kinase binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitogen-activated protein kinase kinase kinase binding IDA
Inferred from Direct Assay
more info
PubMed 
protein C-terminus binding IDA
Inferred from Direct Assay
more info
PubMed 
protein kinase binding IDA
Inferred from Direct Assay
more info
PubMed 
protein-containing complex scaffold activity IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
protein-containing complex IMP
Inferred from Mutant Phenotype
more info
PubMed 

General protein information

Preferred Names
SAM and SH3 domain-containing protein 1
Names
proline-glutamate repeat-containing 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.

Genomic

  1. NG_051927.1 RefSeqGene

    Range
    75318..284775
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001346505.1NP_001333434.1  SAM and SH3 domain-containing protein 1 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AI632133, AL033378, AL513164
  2. NM_001346506.1NP_001333435.1  SAM and SH3 domain-containing protein 1 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AI632133, AL033378, AL513164
  3. NM_001346507.1NP_001333436.1  SAM and SH3 domain-containing protein 1 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AI632133, AL033378
  4. NM_001346508.1NP_001333437.1  SAM and SH3 domain-containing protein 1 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AI632133, AL033378
  5. NM_001346509.1NP_001333438.1  SAM and SH3 domain-containing protein 1 isoform 6

    Status: REVIEWED

    Source sequence(s)
    AI632133, AL033378
  6. NM_015278.4NP_056093.3  SAM and SH3 domain-containing protein 1 isoform 1

    See identical proteins and their annotated locations for NP_056093.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AI632133, AJ507735, AK024403, AK025495
    Consensus CDS
    CCDS5212.1
    UniProtKB/Swiss-Prot
    O94885
    Related
    ENSP00000356437.3, OTTHUMP00000017386, ENST00000367467.7, OTTHUMT00000042619
    Conserved Domains (6) summary
    cd09492
    Location:11731242
    SAM_SASH1_repeat2; SAM domain of SASH1 proteins, repeat 2
    cd09559
    Location:633698
    SAM_SASH1_repeat1; SAM domain of SASH1 proteins, repeat 1
    smart00454
    Location:11741241
    SAM; Sterile alpha motif
    cd11967
    Location:557613
    SH3_SASH1; Src homology 3 domain of SAM And SH3 Domain Containing Protein 1
    pfam12485
    Location:401555
    SLY; Lymphocyte signaling adaptor protein
    cl11396
    Location:9591052
    Patatin_and_cPLA2; Patatins and Phospholipases

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_000006.12 Reference GRCh38.p12 Primary Assembly

    Range
    148193440..148552050
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017010599.1XP_016866088.1  SAM and SH3 domain-containing protein 1 isoform X2

  2. XM_024446384.1XP_024302152.1  SAM and SH3 domain-containing protein 1 isoform X5

    Conserved Domains (5) summary
    cd09492
    Location:11361205
    SAM_SASH1_repeat2; SAM domain of SASH1 proteins, repeat 2
    cd09559
    Location:596661
    SAM_SASH1_repeat1; SAM domain of SASH1 proteins, repeat 1
    cd11967
    Location:520576
    SH3_SASH1; Src homology 3 domain of SAM And SH3 Domain Containing Protein 1
    pfam12485
    Location:364518
    SLY; Lymphocyte signaling adaptor protein
    cl26464
    Location:7391049
    Atrophin-1; Atrophin-1 family
  3. XM_017010600.1XP_016866089.1  SAM and SH3 domain-containing protein 1 isoform X3

  4. XM_017010598.2XP_016866087.1  SAM and SH3 domain-containing protein 1 isoform X1

  5. XM_017010605.1XP_016866094.1  SAM and SH3 domain-containing protein 1 isoform X4

  6. XM_024446385.1XP_024302153.1  SAM and SH3 domain-containing protein 1 isoform X6

    Conserved Domains (5) summary
    cd09492
    Location:10941163
    SAM_SASH1_repeat2; SAM domain of SASH1 proteins, repeat 2
    cd09559
    Location:554619
    SAM_SASH1_repeat1; SAM domain of SASH1 proteins, repeat 1
    cd11967
    Location:478534
    SH3_SASH1; Src homology 3 domain of SAM And SH3 Domain Containing Protein 1
    pfam12485
    Location:325476
    SLY; Lymphocyte signaling adaptor protein
    cl26464
    Location:6971007
    Atrophin-1; Atrophin-1 family
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