9.B.360.1.1
TMEM187 of 261 aas and 7 TMSs. The Q236H variant is near the C-terminus. Like SYTL4 (TC# 9.A.57.1.8), the TMEM187 gene is expressed in the brain and interacts with four known Autism spectrum disorder ASD genes, namely, HCFC1; TMLHE; MECP2; and GPHN. TMM187 is in linkage with MECP2, which is a well-known determinant of brain structure and size and is an autism gene. Other members of the TMEM gene family, TMEM132E and TMEM132D genes are associated with bipolar and panic disorders, respectively, while TMEM231 is a known syndromic autism gene (Rafi et al. 2019).
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| Accession Number: | Q14656 |
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| Protein Name: | Transmembrane protein 187 |
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| Length: | 261 |
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| Molecular Weight: | 29148.00 |
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| Species: | Homo sapiens (Human) [9606] |
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| Number of TMSs: | 7 |
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| Location1 / Topology2 / Orientation3: |
Membrane1 / Multi-pass membrane protein2 |
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| Substrate |
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1: MNPEWGQAFV HVAVAGGLCA VAVFTGIFDS VSVQVGYEHY AEAPVAGLPA FLAMPFNSLV
61: NMAYTLLGLS WLHRGGAMGL GPRYLKDVFA AMALLYGPVQ WLRLWTQWRR AAVLDQWLTL
121: PIFAWPVAWC LYLDRGWRPW LFLSLECVSL ASYGLALLHP QGFEVALGAH VVAAVGQALR
181: THRHYGSTTS ATYLALGVLS CLGFVVLKLC DHQLARWRLF QCLTGHFWSK VCDVLQFHFA
241: FLFLTHFNTH PRFHPSGGKT R