Faktor 1 sazrijevanja lipaze je enzim koji je kod ljudi kodiran genom LMF1 .[5][6][7]

TMEM112
Identifikatori
AliasiLMF1
Vanjski ID-jeviOMIM: 611761 MGI: 1923733 HomoloGene: 23384 GeneCards: LMF1
Lokacija gena (čovjek)
Hromosom 16 (čovjek)
Hrom.Hromosom 16 (čovjek)[1]
Hromosom 16 (čovjek)
Genomska lokacija za TMEM112
Genomska lokacija za TMEM112
Bend16p13.3Početak853,634 bp[1]
Kraj981,318 bp[1]
Lokacija gena (miš)
Hromosom 17 (miš)
Hrom.Hromosom 17 (miš)[2]
Hromosom 17 (miš)
Genomska lokacija za TMEM112
Genomska lokacija za TMEM112
Bend17 A3.3|17 12.7 cMPočetak25,798,059 bp[2]
Kraj25,881,800 bp[2]
Obrazac RNK ekspresije




Više referentnih podataka o ekspresiji
Ortolozi
VrsteČovjekMiš
Entrez
Ensembl
UniProt
RefSeq (mRNK)
NM_001352017
NM_001352018
NM_001352019
NM_001352020
NM_001352021

NM_022773

NM_029624

RefSeq (bjelančevina)
NP_073610
NP_001338946
NP_001338947
NP_001338948
NP_001338949

NP_001338950

NP_083900

Lokacija (UCSC)Chr 16: 0.85 – 0.98 MbChr 17: 25.8 – 25.88 Mb
PubMed pretraga[3][4]
Wikipodaci
Pogledaj/uredi – čovjekPogledaj/uredi – miš

Aminokiselinska sekvenca

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Dužina polipeptidnog lanca je 567 aminokiselina, a molekulska težina 64.873 Da.[8].

Simboli
1020304050
MRPDSPTMAAPAESLRRRKTGYSDPEPESPPAPGRGPAGSPAHLHTGTFW
LTRIVLLKALAFVYFVAFLVAFHQNKQLIGDRGLLPCRVFLKNFQQYFQD
RTSWEVFSYMPTILWLMDWSDMNSNLDLLALLGLGISSFVLITGCANMLL
MAALWGLYMSLVNVGHVWYSFGWESQLLETGFLGIFLCPLWTLSRLPQHT
PTSRIVLWGFRWLIFRIMLGAGLIKIRGDRCWRDLTCMDFHYETQPMPNP
VAYYLHHSPWWFHRFETLSNHFIELLVPFFLFLGRRACIIHGVLQILFQA
VLIVSGNLSFLNWLTMVPSLACFDDATLGFLFPSGPGSLKDRVLQMQRDI
RGARPEPRFGSVVRRAANVSLGVLLAWLSVPVVLNLLSSRQVMNTHFNSL
HIVNTYGAFGSITKERAEVILQGTASSNASAPDAMWEDYEFKCKPGDPSR
RPCLISPYHYRLDWLMWFAAFQTYEHNDWIIHLAGKLLASDAEALSLLAH
NPFAGRPPPRWVRGEHYRYKFSRPGGRHAAEGKWWVRKRIGAYFPPLSLE
ELRPYFRDRGWPLPGPL

Reference

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000103227 - Ensembl, maj 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000002279 - 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. ^ Daniels RJ, Peden JF, Lloyd C, Horsley SW, Clark K, Tufarelli C, Kearney L, Buckle VJ, Doggett NA, Flint J, Higgs DR (Feb 2001). "Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16". Hum Mol Genet. 10 (4): 339–352. doi:10.1093/hmg/10.4.339. PMID 11157797.
  6. ^ Peterfy M, Ben-Zeev O, Mao HZ, Weissglas-Volkov D, Aouizerat BE, Pullinger CR, Frost PH, Kane JP, Malloy MJ, Reue K, Pajukanta P, Doolittle MH (Nov 2007). "Mutations in LMF1 cause combined lipase deficiency and severe hypertriglyceridemia". Nat Genet. 39 (12): 1483–1487. doi:10.1038/ng.2007.24. PMID 17994020. S2CID 22277452.
  7. ^ "Entrez Gene: TMEM112 transmembrane protein 112".
  8. ^ "UniProt, Q96S06". Pristupljeno 10. 7. 2021.

Dopunska literatura

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