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PAMR1 peptidase domain containing associated with muscle regeneration 1 [ Homo sapiens (human) ]

Gene ID: 25891, updated on 11-Jun-2021

Summary

Official Symbol
PAMR1provided by HGNC
Official Full Name
peptidase domain containing associated with muscle regeneration 1provided by HGNC
Primary source
HGNC:HGNC:24554
See related
Ensembl:ENSG00000149090
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
RAMP; FP938; DKFZP586H2123
Expression
Biased expression in endometrium (RPKM 38.4), placenta (RPKM 23.8) and 13 other tissues See more
Orthologs
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Genomic context

See PAMR1 in Genome Data Viewer
Location:
11p13
Exon count:
15
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (35431827..35530300, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (35453374..35551848, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene small nucleolar RNA, C/D box 164 Neighboring gene CD44 molecule (Indian blood group) Neighboring gene SLC1A2 antisense RNA 1 Neighboring gene solute carrier family 1 member 2 Neighboring gene four-jointed box kinase 1 Neighboring gene tripartite motif containing 44

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
A genome-wide association study (GWAS) for bronchopulmonary dysplasia.
GeneReviews: Not available
Common variants in left/right asymmetry genes and pathways are associated with relative hand skill.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in extracellular region IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
inactive serine protease PAMR1
Names
peptidase domain-containing protein associated with muscle regeneration 1
regeneration associated muscle protease
regeneration-associated muscle protease homolog

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001001991.3NP_001001991.1  inactive serine protease PAMR1 isoform b precursor

    See identical proteins and their annotated locations for NP_001001991.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon in the central coding region, compared to variant 1, resulting in an isoform (b) that is shorter than isoform a.
    Source sequence(s)
    AY358346, BC089434, BX640676
    Consensus CDS
    CCDS31460.1
    UniProtKB/Swiss-Prot
    Q6UXH9
    Related
    ENSP00000483703.1, ENST00000619888.5
    Conserved Domains (5) summary
    cd00033
    Location:280343
    CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
    smart00020
    Location:461715
    Tryp_SPc; Trypsin-like serine protease
    cd00041
    Location:128234
    CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
    cd00054
    Location:240272
    EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
    cd00190
    Location:461718
    Tryp_SPc; Trypsin-like serine protease; Many of these are synthesized as inactive precursor zymogens that are cleaved during limited proteolysis to generate their active forms. Alignment contains also inactive enzymes that have substitutions of the catalytic triad ...
  2. NM_001282675.2NP_001269604.1  inactive serine protease PAMR1 isoform c

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, uses a downstream in-frame translational start codon, and lacks an in-frame exon in the central coding region, compared to variant 1. The encoded isoform (c) is shorter at the N-terminus, compared to isoform a.
    Source sequence(s)
    AK297092, AL354921, AY358346
    Consensus CDS
    CCDS60759.1
    UniProtKB/Swiss-Prot
    Q6UXH9
    UniProtKB/TrEMBL
    A0A087WXE9, B7Z4A8
    Related
    ENSP00000480961.1, ENST00000621476.4
    Conserved Domains (5) summary
    cd00033
    Location:240303
    CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
    smart00020
    Location:421675
    Tryp_SPc; Trypsin-like serine protease
    cd00041
    Location:88194
    CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
    cd00054
    Location:200232
    EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
    cd00190
    Location:421678
    Tryp_SPc; Trypsin-like serine protease; Many of these are synthesized as inactive precursor zymogens that are cleaved during limited proteolysis to generate their active forms. Alignment contains also inactive enzymes that have substitutions of the catalytic triad ...
  3. NM_001282676.2NP_001269605.1  inactive serine protease PAMR1 isoform d precursor

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) lacks three internal exons, resulting in the loss of two in-frame segments in the central coding region, compared to variant 1. The encoded isoform (d) is shorter than isoform a.
    Source sequence(s)
    AK300185, AL354921, AY358346
    Consensus CDS
    CCDS60760.1
    UniProtKB/Swiss-Prot
    Q6UXH9
    UniProtKB/TrEMBL
    B7Z6E5
    Related
    ENSP00000479260.1, ENST00000615849.4
    Conserved Domains (4) summary
    cd00033
    Location:169232
    CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
    smart00020
    Location:350604
    Tryp_SPc; Trypsin-like serine protease
    cd00054
    Location:129161
    EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
    cd00190
    Location:350607
    Tryp_SPc; Trypsin-like serine protease; Many of these are synthesized as inactive precursor zymogens that are cleaved during limited proteolysis to generate their active forms. Alignment contains also inactive enzymes that have substitutions of the catalytic triad ...
  4. NM_015430.4NP_056245.2  inactive serine protease PAMR1 isoform a precursor

    See identical proteins and their annotated locations for NP_056245.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
    Source sequence(s)
    AY358346, BC089434
    Consensus CDS
    CCDS7898.1
    UniProtKB/Swiss-Prot
    Q6UXH9
    Related
    ENSP00000482899.1, ENST00000622144.4
    Conserved Domains (4) summary
    cd00033
    Location:297360
    CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
    cd00041
    Location:128234
    CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
    cd00054
    Location:240272
    EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
    cd00190
    Location:478735
    Tryp_SPc; Trypsin-like serine protease; Many of these are synthesized as inactive precursor zymogens that are cleaved during limited proteolysis to generate their active forms. Alignment contains also inactive enzymes that have substitutions of the catalytic triad ...

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    35431827..35530300 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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