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KY kyphoscoliosis peptidase [ Homo sapiens (human) ]

Gene ID: 339855, updated on 3-Apr-2018

Summary

Official Symbol
KYprovided by HGNC
Official Full Name
kyphoscoliosis peptidaseprovided by HGNC
Primary source
HGNC:HGNC:26576
See related
Ensembl:ENSG00000174611 MIM:605739; Vega:OTTHUMG00000159788
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MFM7
Summary
The protein encoded by this gene belongs to the transglutaminase-like superfamily. The protein is involved in the function, maturation and stabilization of the neuromuscular junction and may be required for normal muscle growth. Mutations in this gene are associated with myopathy, myofibrillar, 7. [provided by RefSeq, Apr 2017]
Expression
Biased expression in skin (RPKM 2.4), prostate (RPKM 1.2) and 12 other tissues See more
Orthologs

Genomic context

Location:
3q22.2
Exon count:
11
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 3 NC_000003.12 (134599923..134656053, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (134318765..134370522, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene developmental pluripotency associated 4 pseudogene Neighboring gene anaphase promoting complex subunit 13 Neighboring gene centrosomal protein 63 Neighboring gene EPH receptor B1 Neighboring gene RNA, U6 small nuclear 1174, pseudogene Neighboring gene RNA, 5S ribosomal pseudogene 141

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ33207

Gene Ontology Provided by GOA

Function Evidence Code Pubs
peptidase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
proteolysis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
Z disc ISS
Inferred from Sequence or Structural Similarity
more info
 
cytoskeleton IEA
Inferred from Electronic Annotation
more info
 

NCBI Reference Sequences (RefSeq)

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.

Genomic

  1. NG_054713.1 RefSeqGene

    Range
    10009..61131
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001350859.1NP_001337788.1  kyphoscoliosis peptidase isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) has multiple differences in the coding region but maintains the reading frame, compared to variant 1. This variant encodes isoform 2, which is shorter than isoform 1.
    Source sequence(s)
    AC016931, AC109912
    Conserved Domains (1) summary
    COG5279
    Location:165345
    CYK3; Cytokinesis protein 3, contains TGc (transglutaminase/protease-like) domain [Cell cycle control, cell division, chromosome partitioning]
  2. NM_001350860.1NP_001337789.1  kyphoscoliosis peptidase isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks several exons and includes an alternate 3' terminal exon, compared to variant 1. It encodes isoform 3 which is shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AC016931, AC109912
    Conserved Domains (1) summary
    COG5279
    Location:139322
    CYK3; Cytokinesis protein 3, contains TGc (transglutaminase/protease-like) domain [Cell cycle control, cell division, chromosome partitioning]
  3. NM_178554.5NP_848649.3  kyphoscoliosis peptidase isoform 1

    See identical proteins and their annotated locations for NP_848649.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1)
    Source sequence(s)
    AC016931, AC109912
    Consensus CDS
    CCDS46920.1
    UniProtKB/Swiss-Prot
    Q8NBH2
    Related
    ENSP00000397598.2, OTTHUMP00000216501, ENST00000423778.6
    Conserved Domains (1) summary
    pfam01841
    Location:170282
    Transglut_core; Transglutaminase-like superfamily

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p12 Primary Assembly

    Range
    134599923..134656053 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006713612.3XP_006713675.1  kyphoscoliosis peptidase isoform X5

    Conserved Domains (1) summary
    pfam01841
    Location:190302
    Transglut_core; Transglutaminase-like superfamily
  2. XM_017006290.1XP_016861779.1  kyphoscoliosis peptidase isoform X4

  3. XM_017006288.1XP_016861777.1  kyphoscoliosis peptidase isoform X2

  4. XM_005247418.3XP_005247475.1  kyphoscoliosis peptidase isoform X3

    Related
    ENSP00000421297.1, OTTHUMP00000216503, ENST00000508956.5, OTTHUMT00000357324
    Conserved Domains (1) summary
    pfam01841
    Location:208320
    Transglut_core; Transglutaminase-like superfamily
  5. XM_017006287.1XP_016861776.1  kyphoscoliosis peptidase isoform X1

  6. XM_024453508.1XP_024309276.1  kyphoscoliosis peptidase isoform X6

    Conserved Domains (1) summary
    COG5279
    Location:201384
    CYK3; Cytokinesis protein 3, contains TGc (transglutaminase/protease-like) domain [Cell cycle control, cell division, chromosome partitioning]
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