Protein FAM136A jest protein koji je kod ljudi kodiran genom FAM136A sa hromosoma 2.[5][6]

FAM136A
Identifikatori
AliasiFAM136A
Vanjski ID-jeviOMIM: 616275 MGI: 1913738 HomoloGene: 135942 GeneCards: FAM136A
Lokacija gena (čovjek)
Hromosom 2 (čovjek)
Hrom.Hromosom 2 (čovjek)[1]
Hromosom 2 (čovjek)
Genomska lokacija za FAM136A
Genomska lokacija za FAM136A
Bend2p13.3Početak70,295,975 bp[1]
Kraj70,302,090 bp[1]
Lokacija gena (miš)
Hromosom 6 (miš)
Hrom.Hromosom 6 (miš)[2]
Hromosom 6 (miš)
Genomska lokacija za FAM136A
Genomska lokacija za FAM136A
Bend6|6 D1Početak86,342,628 bp[2]
Kraj86,347,040 bp[2]
Obrazac RNK ekspresije
Više referentnih podataka o ekspresiji
Ortolozi
VrsteČovjekMiš
Entrez
Ensembl
UniProt
RefSeq (mRNK)
NM_001329752
NM_001329753
NM_001329755
NM_001329757
NM_001329758

NM_032822

NM_025591
NM_001368363

RefSeq (bjelančevina)
NP_001316681
NP_001316682
NP_001316684
NP_001316686
NP_001316687

NP_116211

NP_079867
NP_001355292

Lokacija (UCSC)Chr 2: 70.3 – 70.3 MbChr 6: 86.34 – 86.35 Mb
PubMed pretraga[3][4]
Wikipodaci
Pogledaj/uredi – čovjekPogledaj/uredi – miš

Amiokiselininska sekvenca

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Dužina polipeptidnog lanca je 138 aminokiselina, a molkekulska iežina 15.641 Da.[7]

1020304050
MAELQQLRVQEAVESMVKSLERENIRKMQGLMFRCSASCCEDSQASMKQV
HQCIERCHVPLAQAQALVTSELEKFQDRLARCTMHCNDKAKDSIDAGSKE
LQVKQQLDSCVTKCVDDHMHLIPTMTKKMKEALLSIGK

Klinički značaj

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Mutacije u FAM136A su povezane sa Meniereovom bolešću.[8][9]

Reference

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000035141 - Ensembl, maj 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000057497 - Ensembl, maj 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. ^ Strausberg RL, Feingold EA, Grouse LH, Derge JG, Klausner RD, Collins FS, Wagner L, Shenmen CM, Schuler GD, Altschul SF, Zeeberg B, Buetow KH, Schaefer CF, Bhat NK, Hopkins RF, Jordan H, Moore T, Max SI, Wang J, Hsieh F, Diatchenko L, Marusina K, Farmer AA, Rubin GM, Hong L, Stapleton M, Soares MB, Bonaldo MF, Casavant TL, Scheetz TE, Brownstein MJ, Usdin TB, Toshiyuki S, Carninci P, Prange C, Raha SS, Loquellano NA, Peters GJ, Abramson RD, Mullahy SJ, Bosak SA, McEwan PJ, McKernan KJ, Malek JA, Gunaratne PH, Richards S, Worley KC, Hale S, Garcia AM, Gay LJ, Hulyk SW, Villalon DK, Muzny DM, Sodergren EJ, Lu X, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madan A, Young AC, Shevchenko Y, Bouffard GG, Blakesley RW, Touchman JW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Krzywinski MI, Skalska U, Smailus DE, Schnerch A, Schein JE, Jones SJ, Marra MA (Dec 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.
  6. ^ "Entrez Gene: FLJ14668 hypothetical protein FLJ14668".
  7. ^ "UniProt, Q96C01" (jezik: engleski). Pristupljeno 12. 11. 2021.
  8. ^ Lopez-Escamez JA, Carey J, Chung WH, Goebel JA, Magnusson M, Mandalà M, Newman-Toker DE, Strupp M, Suzuki M, Trabalzini F, Bisdorff A (2015). "Diagnostic criteria for Menière's disease". J Vestib Res. 25 (1): 1–7. doi:10.3233/VES-150549. PMID 25882471.
  9. ^ Requena, T; Cabrera, S; Martín-Sierra, C; Price, S. D.; Lysakowski, A; Lopez-Escamez, J. A. (2014). "Identification of two novel mutations in FAM136A and DTNA genes in autosomal dominant familial Meniere's disease". Human Molecular Genetics. 24 (4): 1119–26. doi:10.1093/hmg/ddu524. PMC 4834881. PMID 25305078.

Dopunska literatura

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