Gene: RASA1 ENSG00000145715

Description

RAS p21 protein activator (GTPase activating protein) 1 [Source:HGNC Symbol;Acc:9871]

Gene Synonyms

CM-AVM, CMAVM, GAP, PKWS, RASA, RASGAP, p120GAP, p120RASGAP

Location

Chromosome 5: 86,563,705-86,687,748 forward strand.

GRCh37:CM000667.1

About this gene

This gene has 6 transcripts (splice variants), 9 paralogues and is associated with 6 phenotypes.

Transcripts

Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000274376.6	RASA1-001	3752	1047aa	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS34200	B4DTL8 P20936	NM_002890.2	A single transcript chosen for a gene which is the most conserved, most highly expressed, has the longest coding sequence and is represented in other key resources, such as NCBI and UniProt. This is defined in detail on http://www.ensembl.org/info/genome/genebuild/canonical.htmlEnsembl Canonical, A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000456692.2	RASA1-002	3776	870aa	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS47243	B4DTL8 P20936	NM_022650.2	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000512763.1	RASA1-004	3060	880aa	Gene/transcipt that contains an open reading frame (ORF).Protein coding		B4DTL2 B4DTL8	-	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000506290.1	RASA1-003	3009	881aa	Gene/transcipt that contains an open reading frame (ORF).Protein coding		B4DTL8 E9PGC0	-	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000515800.2	RASA1-005	4979	539aa	Nonsense mediated decay		Q68CU6	-	-
ENST00000509953.1	RASA1-007	802	No protein	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-

Summary

Name

RASA1 (HGNC Symbol)

UniProtKB

This gene has proteins that correspond to the following UniProtKB identifiers: P20936

CCDS

This gene is a member of the Human CCDS set: CCDS34200.1, CCDS47243.1

Ensembl version

ENSG00000145715.10

Other assemblies

This gene maps to 87,267,888-87,391,931 in GRCh38 coordinates.

Gene type

Protein coding

Annotation method

Annotation for this gene includes both automatic annotation from Ensembl and Havana manual curation, see article.

Alternative genes

This gene corresponds to the following database identifiers:

Havana gene:	OTTHUMG00000162605 (version 2)

Loading component

Favourite species

All species

Recent locations

Gene: RASA1 ENSG00000145715

Summary