Human Gene PAMR1 (ENST00000622144.4) Description and Page Index
  Description: Homo sapiens peptidase domain containing associated with muscle regeneration 1 (PAMR1), transcript variant 1, mRNA. (from RefSeq NM_015430)
Gencode Transcript: ENST00000622144.4
Gencode Gene: ENSG00000149090.11
Transcript (Including UTRs)
   Position: hg38 chr11:35,431,823-35,525,623 Size: 93,801 Total Exon Count: 12 Strand: -
Coding Region
   Position: hg38 chr11:35,432,356-35,525,585 Size: 93,230 Coding Exon Count: 12 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
Other NamesMethods
Data last updated: 2019-09-04

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr11:35,431,823-35,525,623)mRNA (may differ from genome)Protein (737 aa)
Gene SorterGenome BrowserOther Species FASTATable SchemaBioGPSCGAP
EnsemblEntrez GeneExonPrimerGeneCardsHGNCHPRD
LynxMGIneXtProtPubMedStanford SOURCEUniProtKB

-  Comments and Description Text from UniProtKB
DESCRIPTION: RecName: Full=Inactive serine protease PAMR1; AltName: Full=Peptidase domain-containing protein associated with muscle regeneration 1; AltName: Full=Regeneration-associated muscle protease homolog; Flags: Precursor;
FUNCTION: May play a role in regeneration of skeletal muscle (By similarity).
SUBCELLULAR LOCATION: Secreted (Potential).
INDUCTION: Strongly down-regulated in muscle cell lines derived from biopsies of 5 Duchenne muscular dystrophy (DMD) patients compared to a normal muscle cell line.
SIMILARITY: Belongs to the peptidase S1 family.
SIMILARITY: Contains 1 CUB domain.
SIMILARITY: Contains 1 EGF-like domain.
SIMILARITY: Contains 1 peptidase S1 domain.
SIMILARITY: Contains 2 Sushi (CCP/SCR) domains.
CAUTION: Although related to peptidase S1 family, lacks the conserved active Ser residue in position 665 which is replaced by a Thr, suggesting that it has no protease activity.
SEQUENCE CAUTION: Sequence=AAQ15224.1; Type=Frameshift; Positions=334;

-  MalaCards Disease Associations
  MalaCards Gene Search: PAMR1
Diseases sorted by gene-association score: duchenne muscular dystrophy (5)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 29.78 RPKM in Cervix - Endocervix
Total median expression: 336.97 RPKM

View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -9.1038-0.239 Picture PostScript Text
3' UTR -169.00533-0.317 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR016060 - Complement_control_module
IPR000859 - CUB
IPR000742 - EG-like_dom
IPR013032 - EGF-like_CS
IPR009003 - Pept_cys/ser_Trypsin-like
IPR001254 - Peptidase_S1_S6
IPR001314 - Peptidase_S1A
IPR000436 - Sushi_SCR_CCP

Pfam Domains:
PF00431 - CUB domain
PF00008 - EGF-like domain
PF00084 - Sushi repeat (SCR repeat)
PF00089 - Trypsin

ModBase Predicted Comparative 3D Structure on Q6UXH9
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
Protein SequenceProtein Sequence    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005509 calcium ion binding

Cellular Component:
GO:0005576 extracellular region

-  Descriptions from all associated GenBank mRNAs
  BX640676 - Homo sapiens mRNA; cDNA DKFZp686N24154 (from clone DKFZp686N24154).
AL832391 - Homo sapiens mRNA; cDNA DKFZp667H2312 (from clone DKFZp667H2312).
AY358346 - Homo sapiens clone DNA58723 ELGC699 (UNQ699) mRNA, complete cds.
BC089434 - Homo sapiens regeneration associated muscle protease, mRNA (cDNA clone MGC:105109 IMAGE:30558617), complete cds.
AK316188 - Homo sapiens cDNA, FLJ79087 complete cds, highly similar to Homo sapiens regeneration associated muscle protease, transcript variant 2, mRNA.
AK027841 - Homo sapiens cDNA FLJ14935 fis, clone PLACE1009992, weakly similar to LIMULUS CLOTTING FACTOR C PRECURSOR (EC
AK297092 - Homo sapiens cDNA FLJ51647 complete cds, highly similar to Homo sapiens regeneration associated muscle protease, transcript variant 2, mRNA.
AK300185 - Homo sapiens cDNA FLJ51648 complete cds, highly similar to Homo sapiens regeneration associated muscle protease, transcript variant 2, mRNA.
KJ893486 - Synthetic construct Homo sapiens clone ccsbBroadEn_02880 PAMR1 gene, encodes complete protein.
AL050214 - Homo sapiens mRNA; cDNA DKFZp586H2123 (from clone DKFZp586H2123); partial cds.
BC038457 - Homo sapiens regeneration associated muscle protease, mRNA (cDNA clone IMAGE:4526572), partial cds.
AF370388 - Homo sapiens FP938 mRNA, complete cds.
JD494157 - Sequence 475181 from Patent EP1572962.
JD355517 - Sequence 336541 from Patent EP1572962.
JD186357 - Sequence 167381 from Patent EP1572962.
JD507354 - Sequence 488378 from Patent EP1572962.
JD195112 - Sequence 176136 from Patent EP1572962.
JD083314 - Sequence 64338 from Patent EP1572962.
JD426896 - Sequence 407920 from Patent EP1572962.
JD358985 - Sequence 340009 from Patent EP1572962.
JD232950 - Sequence 213974 from Patent EP1572962.
JD458708 - Sequence 439732 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: FP938, NM_015430, PAMR1_HUMAN, Q5EBL7, Q5JPI4, Q6N062, Q6UXH9, Q71RE9, Q96JW2, Q9Y432, RAMP, uc031xjw.1, uc031xjw.2, UNQ699/PRO1344
UCSC ID: uc031xjw.2
RefSeq Accession: NM_015430
Protein: Q6UXH9 (aka PAMR1_HUMAN)
CCDS: CCDS7898.1, CCDS31460.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.