Gene: DHCR7

Basic information

Tag Content
Uniprot ID H2R2E7; A0A2J8IQ64;
Entrez ID 451393
Genbank protein ID JAA39596.1; JAA18011.1; JAA09209.1; JAA22841.1;
Genbank nucleotide ID XM_001174211.5
Ensembl protein ID ENSPTRP00000043834
Ensembl nucleotide ID ENSPTRG00000004013
Gene name 7-dehydrocholesterol reductase
Gene symbol DHCR7
Organism Pan troglodytes
NCBI taxa ID 9598
Cleft type
Developmental stage
Data sources Homology search
Reference
Functional description
Sequence
MAAKSQPNIP KAKSLDGVTN DRTASQGQWG RAWEVDWFSL ASVIFLLLFA PFIVYYFIMA 60
CDQYSCALTG PVVDIVTGHA RLSDIWAKTP PITRKAAQLY TLWVTFQVLL YTSLPDFCHK 120
FLPGYVGGIQ EGAVTPAGVV NKYQINGLQA WLLTHLLWFA NAHLLSWFSP TIIFDNWIPL 180
LWCANILGYA VSTFAMVKGY FFPTSARDCK FTGNFFYNYM MGIEFNPRIG KWFDFKLFFN 240
GRPGIVAWTL INLSFAAKQR ELHGHVTNAM VLVNVLQAIY VIDFFWNETW YLKTIDICHD 300
HFGWYLGWGD CVWLPYLYTL QGLYLVYHPV QLSTPHAVGV LLLGLVGYYI FRVANHQKDL 360
FRRTDGRCLI WGRKPKVIEC SYTSADGQRH HSKLLVSGFW GVARHFNYVG DLMGSLAYCL 420
ACGGSHLLPY FYIIYMAILL THRCLRDEHR CASKYGRDWE RYTAAVPYRL LPGIF 475

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Protein disorder information

Orthologous information

Relation Gene symbol Entrez ID UniProt ID Cleft type Developmental stage Species Evidence Details
1:1 orthologDHCR7483675E2RNQ5Canis lupus familiarisPredictionMore>>
1:1 orthologDHCR7A0A452EN40Capra hircusPredictionMore>>
1:1 orthologDHCR7F6TQP5Equus caballusPredictionMore>>
1:1 orthologDHCR71717Q9UBM7Homo sapiensPredictionMore>>
1:1 orthologDhcr713360O88455CPOMus musculusPublicationMore>>
1:1 orthologDHCR7451393H2R2E7Pan troglodytesPredictionMore>>
1:1 orthologDHCR7I3LKI5Sus scrofaPredictionMore>>
1:1 orthologDhcr764191Q9Z2Z8Rattus norvegicusPredictionMore>>
1:1 orthologdhcr7F1QKG5Danio rerioPredictionMore>>

Gene ontology

GO ID GO Term
GO:0005829 cytosol
GO:0030176 integral component of endoplasmic reticulum membrane
GO:0005640 nuclear outer membrane
GO:0047598 7-dehydrocholesterol reductase activity
GO:0016627 oxidoreductase activity, acting on the CH-CH group of donors
GO:0009918 sterol delta7 reductase activity
GO:0001568 blood vessel development
GO:0016132 brassinosteroid biosynthetic process
GO:0030154 cell differentiation
GO:0006695 cholesterol biosynthetic process
GO:0030324 lung development
GO:0035264 multicellular organism growth
GO:0009791 post-embryonic development
GO:0042127 regulation of cell population proliferation
GO:0016126 sterol biosynthetic process

Functional annotations

Keywords

Keyword ID Keyword Term
KW-0472 Membrane
KW-1185 Reference proteome
KW-0812 Transmembrane
KW-1133 Transmembrane helix

Interpro

InterPro ID InterPro Term
IPR001171 Ergosterol_biosynth_ERG4_ERG24
IPR018083 Sterol_reductase_CS

PROSITE

PROSITE ID PROSITE Term
PS01017 STEROL_REDUCT_1
PS01018 STEROL_REDUCT_2

Pfam

Pfam ID Pfam Term
PF01222 ERG4_ERG24