TMEM106A

TMEM106A je gen koji kod Homo sapiens kodira transmembranski protein 106A (TMEM106A).^[5] Nalazi se na poziciji 17q21,31 plus lanca, pored gena povezanih sa rakom NBR1 i BRCA1.^[5][6] Gen TMEM106A sadrži domen nepoznte funkcije, DUF1356.^[5]

TMEM106A
Identifikatori
Aliasi	TMEM106A
Vanjski ID-jevi	MGI: 1922056 HomoloGene: 16996 GeneCards: TMEM106A
Lokacija gena (čovjek) Hrom. Hromosom 17 (čovjek)[1] Bend 17q21.31 Početak 43,211,835 bp[1] Kraj 43,220,041 bp[1]
Lokacija gena (miš) Hrom. Hromosom 11 (miš)[2] Bend 11|11 D Početak 101,473,068 bp[2] Kraj 101,482,614 bp[2]
Ontologija gena Molekularna funkcija • molekularna funkcija Ćelijska komponenta • integral component of membrane • membrana • ćelijska membrana Biološki proces • GO:0022610 biološki proces • CD80 biosynthetic process • CD86 biosynthetic process • macrophage activation • positive regulation of I-kappaB kinase/NF-kappaB signaling • positive regulation of MAPK cascade • positive regulation of MHC class II biosynthetic process • positive regulation of nitric oxide metabolic process • immune system process • Urođeni imunski sistem Izvori:Amigo / QuickGO
Ortolozi
Vrste	Čovjek	Miš
Entrez	113277	217203
Ensembl	ENSG00000184988	ENSMUSG00000034947
UniProt	Q96A25	Q8VC04
RefSeq (mRNK)	NM_001291586 NM_001291587 NM_001291588 NM_145041	NM_144830 NM_001359325 NM_001359326 NM_001359327
RefSeq (bjelančevina)	NP_001278515 NP_001278516 NP_001278517 NP_659478	NP_659079 NP_001346254 NP_001346255 NP_001346256
Lokacija (UCSC)	Chr 17: 43.21 – 43.22 Mb	Chr 11: 101.47 – 101.48 Mb
PubMed pretraga	[3]	[4]
Wikipodaci
Pogledaj/uredi – čovjek Pogledaj/uredi – miš

Struktura proteina

Protein TMEM106A ima molekulsku težinu od 28,9 kdal. Sadrži 262 aminokiseline, od kojih su 240 u domenu funkcije.^[5] Protein ima tranmembransku regiju.^[7] Postoje dokazi o sekundarnoj transmembranskoj regiji kod ljudi, ali nije konzerirana u srodnim ortolozima.^[8] Protein ne sadrži proteinsle peptidne signale.^[9] Njegova truktura sadrži sličan udio alfa-heliksa i beta-lanac sekundarnih struktura (što ne uključuje transmembranske strukture).^[10][11]

Protein TMEM106A sa beta-listovima (crveni), alfa-helksima (plavi) i transmembranskom regijom (siva)

Postoji nekoliko područja za posttranslacijske modifikacije za TMEM106A, ko što su:

* Fosforilacija,^[12]

• N-glikizilacija ^[13]
• Lizinska glikozilacija ^[14]

Aminokiselinska sekvenca

Dužina polipeptidnog lanca je 262 aminokiseline, a molekulska težina 28.920.^[15].

Simboli

C: Cistein
D: Asparaginska kiselina
E: Glutaminska kiselina
F: Fenilalanin
G: Glicin
H: Histidin
I: Izoleucin
K: Lizin
L: Leucin
M: Metionin
N: Asparagin
P: Prolin
Q: Glutamin
R: Arginin
S: Serin
T: Treonin
V: Valin
W: Triptofan
Y: Tirozin

10		20		30		40		50
MGKTFSQLGS		WREDENKSIL		SSKPAIGSKA		VNYSSTGSSK		SFCSCVPCEG
TADASFVTCP		TCQGSGKIPQ		ELEKQLVALI		PYGDQRLKPK		HTKLFVFLAV
LICLVTSSFI		VFFLFPRSVI		VQPAGLNSST		VAFDEADIYL		NITNILNISN
GNYYPIMVTQ		LTLEVLHLSL		VVGQVSNNLL		LHIGPLASEQ		MFYAVATKIR
DENTYKICTW		LEIKVHHVLL		HIQGTLTCSY		LSHSEQLVFQ		SYEYVDCRGN
ASVPHQLTPH		PP

Homologija

Paralozi

Gen TMEM106A ima dva paraloga: TMEM106B i TMEM106C. Ovi paralozi pripadaju porodici gena pfam07092, superporodice DUF1356. Ova porodica sastoji se od nekoliko sisarskih proteina, dužine oko 250 aminokiselina.^[16] TMEM106B i TMEM106C konzervirani su, od beskičmenjakka do sisara.

Protein	Pristupni broj	Aminokiseline	Identitet (%)	Najjača ekspresija
TMEM106A	AAI46977	262	100	Kidney [17]
TMEM106B	NP_001127704	274	43	Ubiquitous [18]
TMEM106C	AAI07793	231	36	Ubiquitous [19]

Ortholozi

Ekspresija gena TMEM106A u ljudskim tkivima^[20]

Gen TMEM106A pronađen je samo u koljenu Chordata.^[21] Od tri potkoljena, TMEM106A najčešće se nalazi u Vertebrata, a pronađen je i u odabranim članovima Tunicata, koji e hrane filteiranjem morske vode kao i beskičmenjaci. Ovo razdvajanje (pot)koljena dogodilo se prije 722,5 miliona godina.^[22] TMEM106A nema kod bakteria, biljaka ii gljiva.

Organizam	Uobičajeno ime	Prisupni broj	Aminokiseline	Identitet (%)	Napomena
Homo sapiens	Čovjek	AAI46977.1	262	100	Sisar
Pan troglodytes	Čimpanza	XP_001154896.2	262	99,2	Sisar
Pongo abelii	Orangutan	XP_002827523.1	262	96,2	Sisar
Callithrix jacchus	Marmozet	XP_002748067.1	262	90,5	Sisar
Canis lupus familiaris	Pas	XP_548074.2	262	84,8	Sisar
Mus musculus	Miš	AAH22145.1	261	66,4	Sisar
Xenopus borealis	Marsabitska kandžasta žaba	ACC55056.1	262	59,5	Vodozemac
Danio rerio	Zebrica	AAH50177.1	282	34,5	Riba
Oikopleura dioica	Morska štrcaljka	CBY08060.1	249	27,8	Beskičmenjak

Ekspresija

TMEM106A se eksprimira u nekoliko ljudskih tkiva. Tkiva/organi s najvećom ekspresijom su maternica, bubrezi, tanko crijevo i želudac.^[17][23] EST profili za ortologe pokazuju da je ekspresija konzervirana sa najvećom ekspresijom u bubrezima i manjom ekspresijom u nekoliko drugih područja. Neka tkiva nikada ne pokazuju ekspresiju, uključujući: mišiće, masno tkivo i kosti.

Gensko susjedstvo

U Homo sapiens, TMEM106A nalazi se pored NBR1, gena koji je identifikovan kao jajnički tumorski antigen nađen u raku jajnika.^[24] It is also located near BRCA1, a breast cancer tumor suppressor gene.^[25] Prvih 140 aminokiselina proteina TMEM106A, uključujući dijelove DUF1356 i transmembransku regiju, deletiraju se zajedno s BRCA1, tokom raka dojke s ranim početkom.^[26]

Gensko susjedstvo lokusa TMEM106A

Reference

1. GRCh38: Ensembl release 89: ENSG00000184988 - Ensembl, maj 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000034947 - 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. "Entrez Gene: TMEM106A transmembrane protein 106A".
6. "Genecards: TMEM106A transmembrane protein 106A".
7. Nakai K, Horton P (januar 1999). "PSORT: a program for detecting sorting signals in proteins and predicting their subcellular localization". Trends Biochem. Sci. 24 (1): 34–6. doi:10.1016/S0968-0004(98)01336-X. PMID 10087920.
8. Persson B, Argos P (mart 1994). "Prediction of transmembrane segments in proteins utilising multiple sequence alignments". J. Mol. Biol. 237 (2): 182–92. doi:10.1006/jmbi.1994.1220. PMID 8126732.
9. Nielsen H, Engelbrecht J, Brunak S, von Heijne G (januar 1997). "Identification of prokaryotic and eukaryotic signal peptides and prediction of their cleavage sites". Protein Eng. 10 (1): 1–6. doi:10.1093/protein/10.1.1. PMID 9051728.
10. Garnier J, Osguthorpe DJ, Robson B (mart 1978). "Analysis of the accuracy and implications of simple methods for predicting the secondary structure of globular proteins". J. Mol. Biol. 120 (1): 97–120. doi:10.1016/0022-2836(78)90297-8. PMID 642007.
11. Chou PY, Fasman GD (1978). "Prediction of the secondary structure of proteins from their amino acid sequence". Advances in Enzymology and Related Areas of Molecular Biology. Adv. Enzymol. Relat. Areas Mol. Biol. Advances in Enzymology - and Related Areas of Molecular Biology. 47. str. 45–148. doi:10.1002/9780470122921.ch2. ISBN 9780470122921. PMID 364941.
12. Blom N, Gammeltoft S, Brunak S (decembar 1999). "Sequence and structure-based prediction of eukaryotic protein phosphorylation sites". J. Mol. Biol. 294 (5): 1351–62. doi:10.1006/jmbi.1999.3310. PMID 10600390.
13. Gupta R, Jung E, Brunak S (2004). "Prediction of N-glycosylation sites in human proteins". Arhivirano s originala, 11. 6. 2021. Pristupljeno 11. 6. 2021. journal zahtijeva |journal= (pomoć)
14. Johansen MB, Kiemer L, Brunak S (septembar 2006). "Analysis and prediction of mammalian protein glycation". Glycobiology. 16 (9): 844–53. CiteSeerX 10.1.1.128.831. doi:10.1093/glycob/cwl009. PMID 16762979.
15. "UniProt, Q96A25". Pristupljeno 12. 6. 2021.
16. "NCBI Conserved Domains: DUF1356".
17. "EST profile: TMEM106A transmembrane protein 106A"..
18. "EST profile: TMEM106B transmembrane protein 106B"..
19. "EST profile: TMEM106C transmembrane protein 106C"..
20. Wu C, Orozco C, Boyer J, Leglise M, Goodale J, Batalov S, Hodge CL, Haase J, Janes J, Huss JW, Su AI (2009). "BioGPS: an extensible and customizable portal for querying and organizing gene annotation resources". Genome Biol. 10 (11): R130. doi:10.1186/gb-2009-10-11-r130. PMC 3091323. PMID 19919682.
21. "NCBI Homologene: TMEM106A".
22. Hedges SB, Dudley J, Kumar S (decembar 2006). "TimeTree: a public knowledge-base of divergence times among organisms". Bioinformatics. 22 (23): 2971–2. doi:10.1093/bioinformatics/btl505. PMID 17021158.
23. "GEO Profiles: TMEM106A transmembrane protein 106A".
24. Whitehouse C, Chambers J, Howe K, Cobourne M, Sharpe P, Solomon E (januar 2002). "NBR1 interacts with fasciculation and elongation protein zeta-1 (FEZ1) and calcium and integrin binding protein (CIB) and shows developmentally restricted expression in the neural tube". Eur. J. Biochem. 269 (2): 538–45. doi:10.1046/j.0014-2956.2001.02681.x. PMID 11856312.
25. Garcia-Casado Z, Romero I, Fernandez-Serra A, Rubio L, Llopis F, Garcia A, Llombart P, Lopez-Guerrero JA (2011). "A de novo complete BRCA1 gene deletion identified in a Spanish woman with early bilateral breast cancer". BMC Med. Genet. 12: 134. doi:10.1186/1471-2350-12-134. PMC 3207938. PMID 21989022.
26. del Valle J, Feliubadaló L, Nadal M, Teulé A, Miró R, Cuesta R, Tornero E, Menéndez M, Darder E, Brunet J, Capellà G, Blanco I, Lázaro C (august 2010). "Identification and comprehensive characterization of large genomic rearrangements in the BRCA1 and BRCA2 genes". Breast Cancer Res. Treat. 122 (3): 733–43. doi:10.1007/s10549-009-0613-9. PMID 19894111. S2CID 22991723.

Dopunska literatura

• Feric M, Zhao B, Hoffert JD, Pisitkun T, Knepper MA (april 2011). "Large-scale phosphoproteomic analysis of membrane proteins in renal proximal and distal tubule". Am. J. Physiol., Cell Physiol. 300 (4): C755–70. doi:10.1152/ajpcell.00360.2010. PMC 3074622. PMID 21209370.