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1.A.17.5.21
TMEM63A or CSC1-like protein of 807 aas and ~10 TMSs. Heterozygous variants in TMEM63A have been identified as the cause of infantile-onset transient hypomyelination. TMEM63A variants are thought to cause transient hypomyelination with favorable developmental progress, but identification of a novel TMEM63A variant showed that the TMEM63A-related clinical spectrum is broad and includes severe developmental delay with seizures (Fukumura et al. 2021).

Accession Number:O94886
Protein Name:CSC1-like protein 1
Length:807
Molecular Weight:92126.00
Species:Homo sapiens (Human) [9606]
Number of TMSs:10
Location1 / Topology2 / Orientation3: Lysosome membrane1 / Multi-pass membrane protein2
Substrate

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Predict TMSs (Predict number of transmembrane segments)
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FASTA formatted sequence
1:	MMDSPFLELW QSKAVSIREQ LGLGDRPNDS YCYNSAKNST VLQGVTFGGI PTVLLIDVSC 
61:	FLFLILVFSI IRRRFWDYGR IALVSEADSE SRFQRLSSTS SSGQQDFENE LGCCPWLTAI 
121:	FRLHDDQILE WCGEDAIHYL SFQRHIIFLL VVVSFLSLCV ILPVNLSGDL LDKDPYSFGR 
181:	TTIANLQTDN DLLWLHTIFA VIYLFLTVGF MRHHTQSIKY KEENLVRRTL FITGLPRDAR 
241:	KETVESHFRD AYPTCEVVDV QLCYNVAKLI YLCKEKKKTE KSLTYYTNLQ VKTGQRTLIN 
301:	PKPCGQFCCC EVLGCEWEDA ISYYTRMKDR LLERITEEER HVQDQPLGMA FVTFQEKSMA 
361:	TYILKDFNAC KCQSLQCKGE PQPSSHSREL YTSKWTVTFA ADPEDICWKN LSIQGLRWWL 
421:	QWLGINFTLF LGLFFLTTPS IILSTMDKFN VTKPIHALNN PIISQFFPTL LLWSFSALLP 
481:	SIVYYSTLLE SHWTKSGENQ IMMTKVYIFL IFMVLILPSL GLTSLDFFFR WLFDKTSSEA 
541:	SIRLECVFLP DQGAFFVNYV IASAFIGNGM ELLRLPGLIL YTFRMIMAKT AADRRNVKQN 
601:	QAFQYEFGAM YAWMLCVFTV IVAYSITCPI IAPFGLIYIL LKHMVDRHNL YFVYLPAKLE 
661:	KGIHFAAVNQ ALAAPILCLF WLYFFSFLRL GMKAPATLFT FLVLLLTILV CLAHTCFGCF 
721:	KHLSPLNYKT EEPASDKGSE AEAHMPPPFT PYVPRILNGL ASERTALSPQ QQQQQTYGAI 
781:	HNISGTIPGQ CLAQSATGSV AAAPQEA