Gene: PMM1 ENSG00000100417

Description

phosphomannomutase 1 [Source:HGNC Symbol;Acc:9114]

Gene Synonyms

PMMH22, Sec53

Location

Chromosome 22: 41,972,898-41,985,894 reverse strand.

GRCh37:CM000684.1

About this gene

This gene has 9 transcripts (splice variants) and 1 paralogue.

Transcripts

Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000216259.7	PMM1-001	1298	262aa	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS14020	Q92871	NM_002676.2	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,
ENST00000414636.1	PMM1-006	567	68aa	Nonsense mediated decay		F8WFD5	-	-
ENST00000466645.1	PMM1-009	575	No protein	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000463617.1	PMM1-005	2538	No protein	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000482178.1	PMM1-004	2020	No protein	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000472620.1	PMM1-002	1576	No protein	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000485648.1	PMM1-003	1405	No protein	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000493389.1	PMM1-007	866	No protein	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000478337.1	PMM1-008	823	No protein	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-

Summary

Name

PMM1 (HGNC Symbol)

UniProtKB

This gene has proteins that correspond to the following UniProtKB identifiers: Q92871

CCDS

This gene is a member of the Human CCDS set: CCDS14020.1

Ensembl version

ENSG00000100417.7

Other assemblies

This gene maps to 41,576,894-41,589,890 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:	OTTHUMG00000150972 (version 3)

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Gene: PMM1 ENSG00000100417

Summary