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

Gene ID: 23328, updated on 8-May-2016
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 HPRD:06408; MIM:607955; Vega:OTTHUMG00000015773
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
Also known as
SH3D6A; dJ323M4; dJ323M4.1
Orthologs
Location:
6q24.3
Exon count:
25
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 6 NC_000006.12 (148193440..148552049)
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 sterile alpha motif domain containing 5 Neighboring gene uncharacterized LOC105378044 Neighboring gene uncharacterized LOC105378045 Neighboring gene cytochrome P450 family 51 subfamily A member 1 pseudogene 3 Neighboring gene small nuclear ribonucleoprotein polypeptide E pseudogene 6 Neighboring gene ribosomal protein SA pseudogene 40

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

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
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • KIAA0790
Preferred Names
SAM and SH3 domain-containing protein 1
Names
2500002E12Rik
proline-glutamate repeat-containing protein

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_015278.3NP_056093.3  SAM and SH3 domain-containing protein 1

    See identical proteins and their annotated locations for NP_056093.3

    Status: VALIDATED

    Source sequence(s)
    AJ507735, AK024403, AK025495
    Consensus CDS
    CCDS5212.1
    UniProtKB/Swiss-Prot
    O94885
    Related
    ENSP00000356437, OTTHUMP00000017386, ENST00000367467, 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:399555
    SLY; Lymphocyte signaling adaptor protein
    cl11396
    Location:9591052
    Patatin_and_cPLA2; Patatins and Phospholipases

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p2 Primary Assembly

    Range
    148193440..148552049
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011535639.1XP_011533941.1  

    Conserved Domains (6) 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
    smart00454
    Location:11371204
    SAM; Sterile alpha motif
    cd11967
    Location:520576
    SH3_SASH1; Src homology 3 domain of SAM And SH3 Domain Containing Protein 1
    pfam12485
    Location:362518
    SLY; Lymphocyte signaling adaptor protein
    cl11396
    Location:9221015
    Patatin_and_cPLA2; Patatins and Phospholipases
  2. XM_011535637.1XP_011533939.1  

    Conserved Domains (6) summary
    cd09492
    Location:11721241
    SAM_SASH1_repeat2; SAM domain of SASH1 proteins, repeat 2
    cd09559
    Location:632697
    SAM_SASH1_repeat1; SAM domain of SASH1 proteins, repeat 1
    smart00454
    Location:11731240
    SAM; Sterile alpha motif
    cd11967
    Location:556612
    SH3_SASH1; Src homology 3 domain of SAM And SH3 Domain Containing Protein 1
    pfam12485
    Location:398554
    SLY; Lymphocyte signaling adaptor protein
    cl11396
    Location:9581051
    Patatin_and_cPLA2; Patatins and Phospholipases
  3. XM_006715406.2XP_006715469.1  

    Conserved Domains (6) summary
    cd09492
    Location:11611230
    SAM_SASH1_repeat2; SAM domain of SASH1 proteins, repeat 2
    cd09559
    Location:621686
    SAM_SASH1_repeat1; SAM domain of SASH1 proteins, repeat 1
    smart00454
    Location:11621229
    SAM; Sterile alpha motif
    cd11967
    Location:545601
    SH3_SASH1; Src homology 3 domain of SAM And SH3 Domain Containing Protein 1
    pfam12485
    Location:387543
    SLY; Lymphocyte signaling adaptor protein
    cl11396
    Location:9471040
    Patatin_and_cPLA2; Patatins and Phospholipases
  4. XM_011535640.1XP_011533942.1  

    See identical proteins and their annotated locations for XP_011533942.1

    Conserved Domains (5) summary
    cd09492
    Location:11281197
    SAM_SASH1_repeat2; SAM domain of SASH1 proteins, repeat 2
    cd09559
    Location:588653
    SAM_SASH1_repeat1; SAM domain of SASH1 proteins, repeat 1
    smart00454
    Location:11291196
    SAM; Sterile alpha motif
    cd11967
    Location:512568
    SH3_SASH1; Src homology 3 domain of SAM And SH3 Domain Containing Protein 1
    pfam12485
    Location:354510
    SLY; Lymphocyte signaling adaptor protein
  5. XM_011535638.1XP_011533940.1  

    Conserved Domains (6) summary
    cd09492
    Location:11641233
    SAM_SASH1_repeat2; SAM domain of SASH1 proteins, repeat 2
    cd09559
    Location:624689
    SAM_SASH1_repeat1; SAM domain of SASH1 proteins, repeat 1
    smart00454
    Location:11651232
    SAM; Sterile alpha motif
    cd11967
    Location:548604
    SH3_SASH1; Src homology 3 domain of SAM And SH3 Domain Containing Protein 1
    pfam12485
    Location:390546
    SLY; Lymphocyte signaling adaptor protein
    cl11396
    Location:9501043
    Patatin_and_cPLA2; Patatins and Phospholipases
  6. XM_005266874.3XP_005266931.1  

    Conserved Domains (6) summary
    cd09492
    Location:12091278
    SAM_SASH1_repeat2; SAM domain of SASH1 proteins, repeat 2
    cd09559
    Location:669734
    SAM_SASH1_repeat1; SAM domain of SASH1 proteins, repeat 1
    smart00454
    Location:12101277
    SAM; Sterile alpha motif
    cd11967
    Location:593649
    SH3_SASH1; Src homology 3 domain of SAM And SH3 Domain Containing Protein 1
    pfam12485
    Location:435591
    SLY; Lymphocyte signaling adaptor protein
    cl11396
    Location:9951088
    Patatin_and_cPLA2; Patatins and Phospholipases
  7. XM_005266875.1XP_005266932.1  

    Conserved Domains (5) summary
    cd09492
    Location:9341003
    SAM_SASH1_repeat2; SAM domain of SASH1 proteins, repeat 2
    cd09559
    Location:394459
    SAM_SASH1_repeat1; SAM domain of SASH1 proteins, repeat 1
    smart00454
    Location:9351002
    SAM; Sterile alpha motif
    cd11967
    Location:318374
    SH3_SASH1; Src homology 3 domain of SAM And SH3 Domain Containing Protein 1
    pfam12485
    Location:160316
    SLY; Lymphocyte signaling adaptor protein

Alternate CHM1_1.1

Genomic

  1. NC_018917.2 Alternate CHM1_1.1

    Range
    148927589..149138096
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)