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Conserved domains on  [gi|1034613316|ref|XP_016859369|]
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hyccin 2 isoform X1 [Homo sapiens]

Protein Classification

hyccin family protein( domain architecture ID 10561132)

hyccin family protein which may have a role in the beta-catenin-Tcf/Lef signaling pathway, as well as in the process of myelination of the central and peripheral nervous system; similar to human hycinn (also known as FAM126A) and FAM126B

Graphical summary

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List of domain hits

Name Accession Description Interval E-value
Hyccin pfam09790
Hyccin; Members of this family of proteins may have a role in the beta-catenin-Tcf/Lef ...
22-330 4.92e-162

Hyccin; Members of this family of proteins may have a role in the beta-catenin-Tcf/Lef signaling pathway, as well as in the process of myelination of the central and peripheral nervous system. Defects in Hyccin are the cause of hypomyelination with congenital cataracts [MIM:610532]. This disorder is characterized by congenital cataracts, progressive neurologic impairment, and diffuse myelin deficiency. Affected individuals experience progressive pyramidal and cerebellar dysfunction, muscle weakness and wasting prevailing in the lower limbs.


:

Pssm-ID: 462903  Cd Length: 323  Bit Score: 464.96  E-value: 4.92e-162
                          10        20        30        40        50        60        70        80
                  ....*....|....*....|....*....|....*....|....*....|....*....|....*....|....*....|
gi 1034613316  22 TQITSYAATLHRKKTLVPALYKVIQD-SNNELLEPVCHQLFELYRSSEVRLKRFTLQFLPELMWVYLRLTVSRDRQSNGC 100
Cdd:pfam09790   1 ADLDRYASSLKSKSALISALYTVLEEpQSYELLDPVCHQLFEFYRSGEDELRLFTLQFLPELIGSYLSALASGDKKSSGC 80
                          90       100       110       120       130       140       150       160
                  ....*....|....*....|....*....|....*....|....*....|....*....|....*....|....*....|
gi 1034613316 101 IEALLLGIYNLEIADKDGNNKVLSFTIPSLSKPSIYHEPSTIGSMALTEGAL--CQHDLIRVVYSDLHPQRETFTAQNRF 178
Cdd:pfam09790  81 FEALLLGIYNLEIVDEDGKPKVVSFRIPSLSQPSIYHEPSSLGSSALTESALrrSEHGLTKTVKSGPHPQVETINAQNRF 160
                         170       180       190       200       210       220       230       240
                  ....*....|....*....|....*....|....*....|....*....|....*....|....*....|....*....|
gi 1034613316 179 EVLSFLMLCYNSAIVYMPASSYQSLCRMGSRVCVSGFPR---------QHEKHWKELCGRIVLDPEFMVQLLTGVYYAMY 249
Cdd:pfam09790 161 EVLTVLLFCYNEHISQMPKSSLLSLCRMTSRLCVCGFPRdtvfessssQEVRGDSSISPRIPVSSEFLVELLRGLYFALY 240
                         250       260       270       280       290       300       310       320
                  ....*....|....*....|....*....|....*....|....*....|....*....|....*....|....*....|
gi 1034613316 250 NGQWDLGQEVLDDIIYRAQLELFSQPLLVANAMKNSLPFDAPDSTQEGQKVLKVEVTPTVPR--ISRTAITTASIRRHRW 327
Cdd:pfam09790 241 NGEWDLALQALDDIHYRAQYELYPEVLLVTNAIKNSLPLNAPGQSKEGPRGISVELTPTSSRtsISKSAITNASFRTKKL 320

                  ...
gi 1034613316 328 RRE 330
Cdd:pfam09790 321 PDD 323
 
Name Accession Description Interval E-value
Hyccin pfam09790
Hyccin; Members of this family of proteins may have a role in the beta-catenin-Tcf/Lef ...
22-330 4.92e-162

Hyccin; Members of this family of proteins may have a role in the beta-catenin-Tcf/Lef signaling pathway, as well as in the process of myelination of the central and peripheral nervous system. Defects in Hyccin are the cause of hypomyelination with congenital cataracts [MIM:610532]. This disorder is characterized by congenital cataracts, progressive neurologic impairment, and diffuse myelin deficiency. Affected individuals experience progressive pyramidal and cerebellar dysfunction, muscle weakness and wasting prevailing in the lower limbs.


Pssm-ID: 462903  Cd Length: 323  Bit Score: 464.96  E-value: 4.92e-162
                          10        20        30        40        50        60        70        80
                  ....*....|....*....|....*....|....*....|....*....|....*....|....*....|....*....|
gi 1034613316  22 TQITSYAATLHRKKTLVPALYKVIQD-SNNELLEPVCHQLFELYRSSEVRLKRFTLQFLPELMWVYLRLTVSRDRQSNGC 100
Cdd:pfam09790   1 ADLDRYASSLKSKSALISALYTVLEEpQSYELLDPVCHQLFEFYRSGEDELRLFTLQFLPELIGSYLSALASGDKKSSGC 80
                          90       100       110       120       130       140       150       160
                  ....*....|....*....|....*....|....*....|....*....|....*....|....*....|....*....|
gi 1034613316 101 IEALLLGIYNLEIADKDGNNKVLSFTIPSLSKPSIYHEPSTIGSMALTEGAL--CQHDLIRVVYSDLHPQRETFTAQNRF 178
Cdd:pfam09790  81 FEALLLGIYNLEIVDEDGKPKVVSFRIPSLSQPSIYHEPSSLGSSALTESALrrSEHGLTKTVKSGPHPQVETINAQNRF 160
                         170       180       190       200       210       220       230       240
                  ....*....|....*....|....*....|....*....|....*....|....*....|....*....|....*....|
gi 1034613316 179 EVLSFLMLCYNSAIVYMPASSYQSLCRMGSRVCVSGFPR---------QHEKHWKELCGRIVLDPEFMVQLLTGVYYAMY 249
Cdd:pfam09790 161 EVLTVLLFCYNEHISQMPKSSLLSLCRMTSRLCVCGFPRdtvfessssQEVRGDSSISPRIPVSSEFLVELLRGLYFALY 240
                         250       260       270       280       290       300       310       320
                  ....*....|....*....|....*....|....*....|....*....|....*....|....*....|....*....|
gi 1034613316 250 NGQWDLGQEVLDDIIYRAQLELFSQPLLVANAMKNSLPFDAPDSTQEGQKVLKVEVTPTVPR--ISRTAITTASIRRHRW 327
Cdd:pfam09790 241 NGEWDLALQALDDIHYRAQYELYPEVLLVTNAIKNSLPLNAPGQSKEGPRGISVELTPTSSRtsISKSAITNASFRTKKL 320

                  ...
gi 1034613316 328 RRE 330
Cdd:pfam09790 321 PDD 323
 
Name Accession Description Interval E-value
Hyccin pfam09790
Hyccin; Members of this family of proteins may have a role in the beta-catenin-Tcf/Lef ...
22-330 4.92e-162

Hyccin; Members of this family of proteins may have a role in the beta-catenin-Tcf/Lef signaling pathway, as well as in the process of myelination of the central and peripheral nervous system. Defects in Hyccin are the cause of hypomyelination with congenital cataracts [MIM:610532]. This disorder is characterized by congenital cataracts, progressive neurologic impairment, and diffuse myelin deficiency. Affected individuals experience progressive pyramidal and cerebellar dysfunction, muscle weakness and wasting prevailing in the lower limbs.


Pssm-ID: 462903  Cd Length: 323  Bit Score: 464.96  E-value: 4.92e-162
                          10        20        30        40        50        60        70        80
                  ....*....|....*....|....*....|....*....|....*....|....*....|....*....|....*....|
gi 1034613316  22 TQITSYAATLHRKKTLVPALYKVIQD-SNNELLEPVCHQLFELYRSSEVRLKRFTLQFLPELMWVYLRLTVSRDRQSNGC 100
Cdd:pfam09790   1 ADLDRYASSLKSKSALISALYTVLEEpQSYELLDPVCHQLFEFYRSGEDELRLFTLQFLPELIGSYLSALASGDKKSSGC 80
                          90       100       110       120       130       140       150       160
                  ....*....|....*....|....*....|....*....|....*....|....*....|....*....|....*....|
gi 1034613316 101 IEALLLGIYNLEIADKDGNNKVLSFTIPSLSKPSIYHEPSTIGSMALTEGAL--CQHDLIRVVYSDLHPQRETFTAQNRF 178
Cdd:pfam09790  81 FEALLLGIYNLEIVDEDGKPKVVSFRIPSLSQPSIYHEPSSLGSSALTESALrrSEHGLTKTVKSGPHPQVETINAQNRF 160
                         170       180       190       200       210       220       230       240
                  ....*....|....*....|....*....|....*....|....*....|....*....|....*....|....*....|
gi 1034613316 179 EVLSFLMLCYNSAIVYMPASSYQSLCRMGSRVCVSGFPR---------QHEKHWKELCGRIVLDPEFMVQLLTGVYYAMY 249
Cdd:pfam09790 161 EVLTVLLFCYNEHISQMPKSSLLSLCRMTSRLCVCGFPRdtvfessssQEVRGDSSISPRIPVSSEFLVELLRGLYFALY 240
                         250       260       270       280       290       300       310       320
                  ....*....|....*....|....*....|....*....|....*....|....*....|....*....|....*....|
gi 1034613316 250 NGQWDLGQEVLDDIIYRAQLELFSQPLLVANAMKNSLPFDAPDSTQEGQKVLKVEVTPTVPR--ISRTAITTASIRRHRW 327
Cdd:pfam09790 241 NGEWDLALQALDDIHYRAQYELYPEVLLVTNAIKNSLPLNAPGQSKEGPRGISVELTPTSSRtsISKSAITNASFRTKKL 320

                  ...
gi 1034613316 328 RRE 330
Cdd:pfam09790 321 PDD 323
 
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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