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Conserved domains on  [gi|1220516016|ref|NP_001340812|]
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transmembrane 6 superfamily member 1 isoform 8 [Homo sapiens]

Protein Classification

Graphical summary

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List of domain hits

 Name Accession Description Interval E-value
TM6SF1-like super family cl42080
transmembrane 6 superfamily member 1, member 2, and similar proteins; This family includes ...
 4-161 1.56e-86

transmembrane 6 superfamily member 1, member 2, and similar proteins; This family includes transmembrane 6 superfamily members 1 (TM6SF1) and 2 (TM6SF2), and similar proteins. TM6SF1 is a widely expressed lysosomal transmembrane protein that may be suitable as a lysosomal marker. Polymorphism of its paralog, TM6SF2, has been associated with the risk for hepatocellular carcinoma, and a variant of the gene has been found to impact the processing of lipids in the liver and the small intestine, causing non-alcoholic fatty liver disease (NAFLD).


The actual alignment was detected with superfamily member cd21106:

Pssm-ID: 477942  Cd Length: 356  Bit Score: 257.50  E-value: 1.56e-86
                          10        20        30        40        50        60        70        80
                  ....*....|....*....|....*....|....*....|....*....|....*....|....*....|....*....|
gi 1220516016   4 IQEAQAKDLLRRPFDLMLVVCLLLATGFCLFRGLIALDCPSELCRLYTQFQEPYLKDPAAYPKIQMLAYMFYSVPYFVTA 83
Cdd:cd21106   198 VEAEQKKSLLKRPLDLLLVLYLLLAIFFTVFRGLAALGCPADLCFTYLKQYEPYLKDPSAFPKVQMLVYLFYFVPYYLLA 277

                          90       100       110       120       130       140       150
                  ....*....|....*....|....*....|....*....|....*....|....*....|....*....|....*...
gi 1220516016  84 LYGLVVPGCSWMPDITLIHAGGLAQAQFSHIGASLHARTAYVYRVPEEAKILFLALNIAYGVLPQLLAYRCIYKPEFF 161
Cdd:cd21106   278 IYGLLVPGCSWMPDWSLIHAGAAAQAQFSHIGASLHSRTPYTYRVPSDGRWAFWLINLLLLVVPQLLAYRCLRDPEFF 355
 
Name Accession Description Interval E-value
TM6SF1-like cd21106
transmembrane 6 superfamily member 1, member 2, and similar proteins; This family includes ...
 4-161 1.56e-86

transmembrane 6 superfamily member 1, member 2, and similar proteins; This family includes transmembrane 6 superfamily members 1 (TM6SF1) and 2 (TM6SF2), and similar proteins. TM6SF1 is a widely expressed lysosomal transmembrane protein that may be suitable as a lysosomal marker. Polymorphism of its paralog, TM6SF2, has been associated with the risk for hepatocellular carcinoma, and a variant of the gene has been found to impact the processing of lipids in the liver and the small intestine, causing non-alcoholic fatty liver disease (NAFLD).


Pssm-ID: 411047  Cd Length: 356  Bit Score: 257.50  E-value: 1.56e-86
                          10        20        30        40        50        60        70        80
                  ....*....|....*....|....*....|....*....|....*....|....*....|....*....|....*....|
gi 1220516016   4 IQEAQAKDLLRRPFDLMLVVCLLLATGFCLFRGLIALDCPSELCRLYTQFQEPYLKDPAAYPKIQMLAYMFYSVPYFVTA 83
Cdd:cd21106   198 VEAEQKKSLLKRPLDLLLVLYLLLAIFFTVFRGLAALGCPADLCFTYLKQYEPYLKDPSAFPKVQMLVYLFYFVPYYLLA 277

                          90       100       110       120       130       140       150
                  ....*....|....*....|....*....|....*....|....*....|....*....|....*....|....*...
gi 1220516016  84 LYGLVVPGCSWMPDITLIHAGGLAQAQFSHIGASLHARTAYVYRVPEEAKILFLALNIAYGVLPQLLAYRCIYKPEFF 161
Cdd:cd21106   278 IYGLLVPGCSWMPDWSLIHAGAAAQAQFSHIGASLHSRTPYTYRVPSDGRWAFWLINLLLLVVPQLLAYRCLRDPEFF 355
EBP pfam05241
EXPERA (EXPanded EBP superfamily); The EXPERA (EXPanded EBP superfamily) domain is conserved ...
 59-154 2.06e-05

EXPERA (EXPanded EBP superfamily); The EXPERA (EXPanded EBP superfamily) domain is conserved among the following protein families: TM6SF1 (Transmembrane 6 Superfamily Member 1), TM6SF2 (Transmembrane 6 Superfamily Member 2), MAC30 (Meningioma-associated protein 30 also known as TMEM97, or Transmembrane protein 97), and EBP (Emopamil binding protein). EBP is an enzyme with a D8, D7 sterol isomerase activity that catalyzes the transposition of a double bond from C8=C9 to C7=C8 in the sterol B-ring. Mutations of EBP are known to cause the genetic disorder of X-linked dominant chondrodysplasia punctata (CDPX2). This syndrome of humans is lethal in most males, and affected females display asymmetric hyperkeratotic skin and skeletal abnormalities.


Pssm-ID: 461600  Cd Length: 112  Bit Score: 41.75  E-value: 2.06e-05
                          10        20        30        40        50        60        70        80
                  ....*....|....*....|....*....|....*....|....*....|....*....|....*....|....*....|
gi 1220516016  59 KDP---AAYPKIQMLAYMFYSVPYFVTALYGLVvpgCSWMPDITLIHAGGLAQAQFSHIGASLHARTAYVYRVPEEA--- 132
Cdd:pfam05241  14 SDPfvaGPPFVSFELLEAFFQGPLFFLAAYALL---KSPWRLLLLRYALQTATTTLQCYGDVLYFATEWLEGGLSLSrpf 90

                          90       100
                  ....*....|....*....|..
gi 1220516016 133 KILFLALNIAYGVLPQLLAYRC 154
Cdd:pfam05241  91 WVYLVFLNLPWLVIPLLLLVDS 112
rim_protein TIGR01257
retinal-specific rim ABC transporter; This model describes the photoreceptor protein (rim ...
 10-84 2.57e-03

retinal-specific rim ABC transporter; This model describes the photoreceptor protein (rim protein) in eukaryotes. It is the member of ABC transporter superfamily. Rim protein is a membrane glycoprotein which is localized in the photoreceptor outer segment discs. Mutation/s in its genetic loci is implicated in the recessive Stargardt's disease. [Transport and binding proteins, Other]


Pssm-ID: 130324 [Multi-domain]  Cd Length: 2272  Bit Score: 37.69  E-value: 2.57e-03
                           10        20        30        40        50        60        70
                   ....*....|....*....|....*....|....*....|....*....|....*....|....*....|....*..
gi 1220516016   10 KDLLRrpFDLMLVVCLLLATGFCLFRGLIALDCPSELCRLYTQFQEPYLKDPAAYPKI--QMLAYMFYSVPYFVTAL 84
Cdd:TIGR01257 1820 RTLLR--FNAMLRKLLIVFPHFCLGRGLIDLALSQAVTDVYAQFGEEHSANPFQWDLIgkNLVAMAVEGVVYFLLTL 1894
 
Name Accession Description Interval E-value
TM6SF1-like cd21106
transmembrane 6 superfamily member 1, member 2, and similar proteins; This family includes ...
 4-161 1.56e-86

transmembrane 6 superfamily member 1, member 2, and similar proteins; This family includes transmembrane 6 superfamily members 1 (TM6SF1) and 2 (TM6SF2), and similar proteins. TM6SF1 is a widely expressed lysosomal transmembrane protein that may be suitable as a lysosomal marker. Polymorphism of its paralog, TM6SF2, has been associated with the risk for hepatocellular carcinoma, and a variant of the gene has been found to impact the processing of lipids in the liver and the small intestine, causing non-alcoholic fatty liver disease (NAFLD).


Pssm-ID: 411047  Cd Length: 356  Bit Score: 257.50  E-value: 1.56e-86
                          10        20        30        40        50        60        70        80
                  ....*....|....*....|....*....|....*....|....*....|....*....|....*....|....*....|
gi 1220516016   4 IQEAQAKDLLRRPFDLMLVVCLLLATGFCLFRGLIALDCPSELCRLYTQFQEPYLKDPAAYPKIQMLAYMFYSVPYFVTA 83
Cdd:cd21106   198 VEAEQKKSLLKRPLDLLLVLYLLLAIFFTVFRGLAALGCPADLCFTYLKQYEPYLKDPSAFPKVQMLVYLFYFVPYYLLA 277

                          90       100       110       120       130       140       150
                  ....*....|....*....|....*....|....*....|....*....|....*....|....*....|....*...
gi 1220516016  84 LYGLVVPGCSWMPDITLIHAGGLAQAQFSHIGASLHARTAYVYRVPEEAKILFLALNIAYGVLPQLLAYRCIYKPEFF 161
Cdd:cd21106   278 IYGLLVPGCSWMPDWSLIHAGAAAQAQFSHIGASLHSRTPYTYRVPSDGRWAFWLINLLLLVVPQLLAYRCLRDPEFF 355
EBP pfam05241
EXPERA (EXPanded EBP superfamily); The EXPERA (EXPanded EBP superfamily) domain is conserved ...
 59-154 2.06e-05

EXPERA (EXPanded EBP superfamily); The EXPERA (EXPanded EBP superfamily) domain is conserved among the following protein families: TM6SF1 (Transmembrane 6 Superfamily Member 1), TM6SF2 (Transmembrane 6 Superfamily Member 2), MAC30 (Meningioma-associated protein 30 also known as TMEM97, or Transmembrane protein 97), and EBP (Emopamil binding protein). EBP is an enzyme with a D8, D7 sterol isomerase activity that catalyzes the transposition of a double bond from C8=C9 to C7=C8 in the sterol B-ring. Mutations of EBP are known to cause the genetic disorder of X-linked dominant chondrodysplasia punctata (CDPX2). This syndrome of humans is lethal in most males, and affected females display asymmetric hyperkeratotic skin and skeletal abnormalities.


Pssm-ID: 461600  Cd Length: 112  Bit Score: 41.75  E-value: 2.06e-05
                          10        20        30        40        50        60        70        80
                  ....*....|....*....|....*....|....*....|....*....|....*....|....*....|....*....|
gi 1220516016  59 KDP---AAYPKIQMLAYMFYSVPYFVTALYGLVvpgCSWMPDITLIHAGGLAQAQFSHIGASLHARTAYVYRVPEEA--- 132
Cdd:pfam05241  14 SDPfvaGPPFVSFELLEAFFQGPLFFLAAYALL---KSPWRLLLLRYALQTATTTLQCYGDVLYFATEWLEGGLSLSrpf 90

                          90       100
                  ....*....|....*....|..
gi 1220516016 133 KILFLALNIAYGVLPQLLAYRC 154
Cdd:pfam05241  91 WVYLVFLNLPWLVIPLLLLVDS 112
rim_protein TIGR01257
retinal-specific rim ABC transporter; This model describes the photoreceptor protein (rim ...
 10-84 2.57e-03

retinal-specific rim ABC transporter; This model describes the photoreceptor protein (rim protein) in eukaryotes. It is the member of ABC transporter superfamily. Rim protein is a membrane glycoprotein which is localized in the photoreceptor outer segment discs. Mutation/s in its genetic loci is implicated in the recessive Stargardt's disease. [Transport and binding proteins, Other]


Pssm-ID: 130324 [Multi-domain]  Cd Length: 2272  Bit Score: 37.69  E-value: 2.57e-03
                           10        20        30        40        50        60        70
                   ....*....|....*....|....*....|....*....|....*....|....*....|....*....|....*..
gi 1220516016   10 KDLLRrpFDLMLVVCLLLATGFCLFRGLIALDCPSELCRLYTQFQEPYLKDPAAYPKI--QMLAYMFYSVPYFVTAL 84
Cdd:TIGR01257 1820 RTLLR--FNAMLRKLLIVFPHFCLGRGLIDLALSQAVTDVYAQFGEEHSANPFQWDLIgkNLVAMAVEGVVYFLLTL 1894
 
Blast search parameters
Data Source: Precalculated data, version = cdd.v.3.21
Preset Options:Database: CDSEARCH/cdd   Low complexity filter: no  Composition Based Adjustment: yes   E-value threshold: 0.01

References:

  • Wang J et al. (2023), "The conserved domain database in 2023", Nucleic Acids Res.51(D)384-8.
  • Lu S et al. (2020), "The conserved domain database in 2020", Nucleic Acids Res.48(D)265-8.
  • Marchler-Bauer A et al. (2017), "CDD/SPARCLE: functional classification of proteins via subfamily domain architectures.", Nucleic Acids Res.45(D)200-3.
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