MATCAP1

MATCAP1
Identifiers
AliasesMATCAP1, KIAA0895 like, KIAA0895L, microtubule associated tyrosine carboxypeptidase 1
External IDsMGI: 1921606; GeneCards: MATCAP1
Enzyme activity
EC #BRENDAExPASyKEGGMetaCyc
3.4.17.17↗↗↗↗
Orthologs
DatabasesNCBI: entry; OMA: entry
SpeciesHumanMouse
Entrez

653319

74356

Ensembl

ENSG00000196123

ENSMUSG00000014837

UniProt

Q68EN5

Q810A5

RefSeq (mRNA)

NM_001040715

NM_001166394
NM_028888

RefSeq (protein)

NP_001159866
NP_083164

Location (UCSC)Chr 16: 67.18 – 67.18 MbChr 8: 106.01 – 106.02 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Microtubule-associated tyrosine carboxypeptidase 1 is an enzyme that in humans is encoded by the MATCAP1 gene (previously KIAA0895L).[5] It is a protease, which removes a tyrosine from the (C-terminal) end of cytoskeleton proteins called alpha tubulin.[6] In this way, it helps regulate the function and dynamics of alpha tubulin.[6]

Gene

MATCAP1 is located at q22.1 on chromosome 16 of the human genome.[7] Its genomic DNA consists of 8,379 base pairs.[8] MATCAP1 is located between EXOC3L and E2F4 on the right, and NOL3 and HSF4 on the left.[9] The promoter for MATCAP1 is located on chromosome 16 and spans 67217367-67218383bp.[10][11]

MATCAP1 was first documented by the Mammalian Gene Collection Program Team in 2002.[12] There are several patents on MATCAP1, two of those being patent US 6943241 and patent EP1308459.[13]

Gene neighborhood of MATCAP1.

Species distribution

Time of ortholog split of MATCAP1.
Multiple sequence alignment of MATCAP1 and its homologs.

MATCAP1 orthologs can be found in all mammals.[14] It is not found in plants, archaea, or fungi. MATCAP1 has a single paralog, known as MATCAP2.[15]

The known orthologs of MATCAP1 are listed below:[16][17]

  • Chimpanzee – LOC741288
  • Rhesus monkey – LOC696623
  • Dog – LOC489765
  • Horse – LOC100053028
  • Giant panda – PANDA_006923
  • Cow – LOC512420
  • Norway rat – LOC688736
  • Zebra finch – LOC100223241
  • Chicken – LOC415660
  • Mouse – LOC74356
  • Opossum – LOC100019983
  • Puffer fish – Unnamed
  • Sea squirt – LOC100177006
  • Platypus – LOC100078127
  • Zebrafish – LOC562097
  • Frog – LOC100135412
  • Sea urchin – KIAA0895
  • Ciliated protozoa – TTherm_01042050
  • Plasmodium – PY05482
  • Trichoplax adherens – TRIADDRAFT_62861
  • Kordia – KAOT1_03617

Structure

Domain of unknown function 1704
Identifiers
SymbolDUF1704
PfamPF08014
InterProIPR012548
Available protein structures:
PDB  IPR012548 PF08014 (ECOD; PDBsum)  
AlphaFold

MATCAP1 is composed of 471 amino acids (53.5kDa).[18] A proline-rich region was also revealed at 14-65 amino acids.[19] There is also an area of low complexity at 2913-2917 bp in the 3’ UTR region.[20][21] There is a conserved domain of unknown function, known as DUF1704, located at 1390-2083 bp.[22]

KIAA0895L's conserved domain and motif.

Predicted post translational modifications

The following is a list of predicted post translational modifications found for MATCAP1.[23] These are predicted in all mammalian orthologs in the public sequence database.

type of modification residues modified
O-GlaNAc glycosylation T19, T96, T174, and T314
Ser, Thr, and Tyr phosphorylation S16, S20, S23, S31, S80, S82, S85, S88, S136, S349, S419, T96, T112, T125, T284, T379, T406, Y84, Y360, and Y420
Kinase-specific phosphorylation T96 and T125

Tissue distribution

MATCAP1 is expressed in many tissues of the body such as brain, testis, mammary glands, bladder, and the eye.[24]

Clinical significance

MATCAP1 has been shown to be up regulated[25] in lymphoblastoid cells from males with autism that is caused by an expansion of a CGG repeat in the promoter region of the fragile X mental retardation 1 gene located at Xq27.3[26] as well as in cells with a 15q11-q13 mutation.

Notes and references

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000196123 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000014837 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ "Entrez Gene: KIAA0895-like".
  6. ^ a b "Q68EN5 · MACA1_HUMAN". uniprot.org. UniProt consortium. Retrieved 2026-08-03.
  7. ^ Genecards bin/cards/carddisp.pl?gene=KIAA0895L&search=KIAA0895L[dead link]
  8. ^ NCBI
  9. ^ NCBI Entrez Gene
  10. ^ UCSC Genome Bioinformatics
  11. ^ "Genomatix". Archived from the original on 2021-12-02. Retrieved 2010-04-23.
  12. ^ Strausberg RL, Feingold EA, Grouse LH, et al. (December 2002). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
  13. ^ BLAST (Basic Local Alignment Search Tool)
  14. ^ KEGG
  15. ^ KEGG
  16. ^ SDBC(San Diego Supercomputer Center Biology Workbench)
  17. ^ Higgins DG, Bleasby AJ, Fuchs R (April 1992). "CLUSTAL V: improved software for multiple sequence alignment". Comput. Appl. Biosci. 8 (2): 189–91. doi:10.1093/bioinformatics/8.2.189. PMID 1591615.
  18. ^ Genecards bin/cards/carddisp.pl?gene=KIAA0895L&search=KIAA0895L[dead link]
  19. ^ KEGG(Kyoto Encyclopedia of Genes and Genomes)
  20. ^ "Dotlet(My Hits)". Archived from the original on 2013-05-17. Retrieved 2010-04-23.
  21. ^ Junier T, Pagni M (February 2000). "Dotlet: diagonal plots in a web browser". Bioinformatics. 16 (2): 178–9. doi:10.1093/bioinformatics/16.2.178. PMID 10842741.
  22. ^ BLAST(Basic Local Alignment Search Tool)
  23. ^ Swiss Institute of Bioinformatics, ExPASy [1] Archived 2010-04-13 at the Wayback Machine
  24. ^ Genecards
  25. ^ NCBI GEO (National Center for Biotechnology Information Gene Expression Omnibus)[2]
  26. ^ Nishimura Y, Martin CL, Vazquez-Lopez A, Spence SJ, Alvarez-Retuerto AI, Sigman M, Steindler C, Pellegrini S, Schanen NC, Warren ST, Geschwind DH (July 2007). "Genome-wide expression profiling of lymphoblastoid cell lines distinguishes different forms of autism and reveals shared pathways". Hum. Mol. Genet. 16 (14): 1682–98. doi:10.1093/hmg/ddm116. PMID 17519220.

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