Gene

sash1b

ID

ZDB-GENE-110228-1

Name

SAM and SH3 domain containing 1b

Symbol

sash1b Nomenclature History

Previous Names

None

Type

protein_coding_gene

Location

Chr: 17 Mapping Details/Browsers

Description

Human ortholog(s) of this gene implicated in dyschromatosis universalis hereditaria. Orthologous to human SASH1 (SAM and SH3 domain containing 1) and SAMD5 (sterile alpha motif domain containing 5).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

No data available

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 sash1b 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 sash1b 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
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	SH3 domain	SH3-like domain superfamily	SLy proteins associated disordered region	Sterile alpha motif domain	Sterile alpha motif/pointed domain superfamily
UniProtKB:E7FBN5 InterPro
UniProtKB:A0A8M6YT80 InterPro	1022
UniProtKB:A0A8M9Q252 InterPro	1021
UniProtKB:A0A8M9PNW4 InterPro	1022
UniProtKB:A0A8M6YVQ4 InterPro	1157
UniProtKB:A0A8M9Q6C4 InterPro	922
UniProtKB:A0A8M6Z1N0 InterPro	1021
UniProtKB:A0A8M9PCH1 InterPro	1031
UniProtKB:A0A8M6Z2C1 InterPro	1156
UniProtKB:A0A8M9PP34 InterPro	1031
UniProtKB:A0A8M9Q247 InterPro	1032
UniProtKB:A0A8M9PV69 InterPro	923

Transcripts

Genome Browsers

NCBI

No data available

Interactions and Pathways

No data available

Antibodies

No data available

Plasmids

No data available

Constructs

Marker Relationships

Sequences

Orthology

Comparative Orthology: Alliance

Citations