Gene: SERPING1 ENSG00000149131

Description

serpin peptidase inhibitor, clade G (C1 inhibitor), member 1 [Source:HGNC Symbol;Acc:1228]

Gene Synonyms

C1-INH, C1IN, C1INH, C1NH, HAE1, HAE2

Location

Chromosome 11: 57,364,860-57,382,326 forward strand.

GRCh37:CM000673.1

About this gene

This gene has 12 transcripts (splice variants), 13 paralogues and is associated with 3 phenotypes.

Transcripts

Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000278407.4	SERPING1-001	2002	500aa	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS7962	B4E1H2 B5MCB9 E9KL26 P05155	NM_000062.2	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,
ENST00000403558.1	SERPING1-002	2231	543aa	Gene/transcipt that contains an open reading frame (ORF).Protein coding		B5MCB9 C9JZJ9 E9PGN7	NM_001032295.1	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000378324.2	SERPING1-007	1751	448aa	Gene/transcipt that contains an open reading frame (ORF).Protein coding		B4E1H2	-	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000378323.4	SERPING1-005	1733	505aa	Gene/transcipt that contains an open reading frame (ORF).Protein coding		B4E1F0 B4E1H2	-	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000340687.6	SERPING1-006	1719	463aa	Gene/transcipt that contains an open reading frame (ORF).Protein coding		B5MCB9 H9KV48	-	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000405496.1	SERPING1-004	648	160aa	Gene/transcipt that contains an open reading frame (ORF).Protein coding		B5MCB9	-	3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete,
ENST00000457869.1	SERPING1-003	569	122aa	Gene/transcipt that contains an open reading frame (ORF).Protein coding		C9JZJ9	-	3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete,
ENST00000531133.1	SERPING1-008	1004	43aa	Nonsense mediated decay		E9PK97	-	-
ENST00000528996.1	SERPING1-011	956	86aa	Nonsense mediated decay		H0YCA1	-	5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete,
ENST00000531797.1	SERPING1-009	907	43aa	Nonsense mediated decay		E9PK97	-	-
ENST00000531605.1	SERPING1-010	579	No protein	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000530113.1	SERPING1-012	908	No protein	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-

Summary

Name

SERPING1 (HGNC Symbol)

UniProtKB

This gene has proteins that correspond to the following UniProtKB identifiers: P05155

CCDS

This gene is a member of the Human CCDS set: CCDS7962.1

LRG

LRG_105 provides a stable genomic reference framework for describing sequence variants for this gene

Ensembl version

ENSG00000149131.11

Other assemblies

This gene maps to 57,597,387-57,614,853 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:	OTTHUMG00000150304 (version 2)

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Gene: SERPING1 ENSG00000149131

Summary