Gene

sash1a

ID

ZDB-GENE-030131-9960

Name

SAM and SH3 domain containing 1a

Symbol

sash1a Nomenclature History

Previous Names

fi33a01
ik:tdsubc_2e1
si:dkey-264g21.1
tdsubc_2e1
wu:fi33a01 (1)
xx:tdsubc_2e1

Type

protein_coding_gene

Location

Chr: 20 Mapping Details/Browsers

Description

Human ortholog(s) of this gene implicated in dyschromatosis universalis hereditaria. Is expressed in forebrain; hindbrain; and midbrain. Orthologous to human SASH1 (SAM and SH3 domain containing 1).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

1 figure from Shamay-Ramot et al., 2015

Cross-Species Comparison

High Throughput Data

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Thisse Expression Data

No data available

Wild Type Expression Summary

Phenotype

All Phenotype Data: No data available
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With sash1a Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
dyschromatosis universalis hereditaria	Alliance	Dyschromatosis universalis hereditaria 1	127500
		?Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma	618373

Associated With sash1a Via Experimental Models

No data available

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Domain	IPR001452	SH3 domain
Domain	IPR001660	Sterile alpha motif domain
Domain	IPR021090	SLy proteins associated disordered region
Domain	IPR035720	SAM and SH3 domain-containing protein 1, SH3 domain
Domain	IPR037627	SASH1, SAM domain repeat 1
Domain	IPR037630	SASH1, SAM domain repeat 2
Homologous_superfamily	IPR013761	Sterile alpha motif/pointed domain superfamily
Homologous_superfamily	IPR036028	SH3-like domain superfamily

Domain Details Per Protein

Protein	Length	SAM and SH3 domain-containing protein 1, SH3 domain	SASH1, SAM domain repeat 1	SASH1, SAM domain repeat 2	SH3 domain	SH3-like domain superfamily	SLy proteins associated disordered region	Sterile alpha motif domain	Sterile alpha motif/pointed domain superfamily
UniProtKB:Q5TZ33 InterPro	1192
UniProtKB:A0A8M9PPD1 InterPro	1304
UniProtKB:A0A8M9PSQ8 InterPro	1326
UniProtKB:A0A8M9P2L4 InterPro	1471
UniProtKB:A0A8M9PHC0 InterPro	1338
UniProtKB:A0A8M9PBR7 InterPro	1371
UniProtKB:A0A8M9PPC5 InterPro	1505

Transcripts

Genome Browsers

Type	Name	Annotation Method	Length (nt)	Analysis
mRNA	sash1a-201 (1) Ensembl	Havana	7137 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT
mRNA	sash1a-203 (1) Ensembl	Havana	3742 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT
mRNA	sash1a-204 (1) Ensembl	Havana	780 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT
mRNA	sash1a-205 (1) Ensembl	Havana	718 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT

Interactions and Pathways

No data available

Antibodies

No data available

Plasmids

No data available

Constructs

Marker Relationships

Sequences

Orthology

Comparative Orthology: Alliance
Gene Tree: Ensembl

Citations