keyword:KW-0856 in UniProtKB

1 - 25 of 30 results for keyword:"Williams-Beuren syndrome [KW-0856]" in UniProtKB

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Entry	Entry name	Protein names	Gene names	Organism	Length
Q8NFV4	ABHDB_HUMAN	Alpha/beta hydrolase domain-containing protei... Alpha/beta hydrolase domain-containing protein 11 (Abhydrolase domain-containing protein 11) (EC 3.-.-.-) (Williams-Beuren syndrome chromosomal region 21 protein)	ABHD11 WBSCR21 PP1226	Homo sapiens (Human)	315
Q9UIG0	BAZ1B_HUMAN	Tyrosine-protein kinase BAZ1B Tyrosine-protein kinase BAZ1B (EC 2.7.10.2) (Bromodomain adjacent to zinc finger domain protein 1B) (Williams syndrome transcription factor) (Williams-Beuren syndrome chromosomal region 10 protein) (Williams-Beuren syndrome chromosomal region 9 protein) (hWALp2)	BAZ1B WBSC10 WBSCR10 WBSCR9 WSTF	Homo sapiens (Human)	1,483
Q9BQE9	BCL7B_HUMAN	B-cell CLL/lymphoma 7 protein family member B B-cell CLL/lymphoma 7 protein family member B (allergen Hom s 3)	BCL7B	Homo sapiens (Human)	202
O15551	CLD3_HUMAN	Claudin-3 Claudin-3 (Clostridium perfringens enterotoxin receptor 2) (CPE-R 2) (CPE-receptor 2) (Rat ventral prostate.1 protein homolog) (hRVP1)	CLDN3 C7orf1 CPETR2	Homo sapiens (Human)	220
O14493	CLD4_HUMAN	Claudin-4 Claudin-4 (Clostridium perfringens enterotoxin receptor) (CPE-R) (CPE-receptor) (Williams-Beuren syndrome chromosomal region 8 protein)	CLDN4 CPER CPETR1 WBSCR8	Homo sapiens (Human)	209
Q9UDT6	CLIP2_HUMAN	CAP-Gly domain-containing linker protein 2 CAP-Gly domain-containing linker protein 2 (Cytoplasmic linker protein 115) (CLIP-115) (Cytoplasmic linker protein 2) (Williams-Beuren syndrome chromosomal region 3 protein) (Williams-Beuren syndrome chromosomal region 4 protein)	CLIP2 CYLN2 KIAA0291 WBSCR3 WBSCR4 WSCR4	Homo sapiens (Human)	1,046
Q96LL9	DJC30_HUMAN	DnaJ homolog subfamily C member 30 DnaJ homolog subfamily C member 30 (Williams-Beuren syndrome chromosomal region 18 protein)	DNAJC30 WBSCR18	Homo sapiens (Human)	226
P15502	ELN_HUMAN	Elastin Elastin (Tropoelastin)	ELN	Homo sapiens (Human)	786
O75344	FKBP6_HUMAN	Peptidyl-prolyl cis-trans isomerase FKBP6 Peptidyl-prolyl cis-trans isomerase FKBP6 (PPIase FKBP6) (EC 5.2.1.8) (36 kDa FK506-binding protein) (36 kDa FKBP) (FKBP-36) (FK506-binding protein 6) (FKBP-6) (Immunophilin FKBP36) (Rotamase)	FKBP6 FKBP36	Homo sapiens (Human)	327
Q6IS24	GLTL3_HUMAN	Putative polypeptide N-acetylgalactosaminyltr... Putative polypeptide N-acetylgalactosaminyltransferase-like protein 3 (EC 2.4.1.41) (Polypeptide GalNAc transferase-like protein 3) (GalNAc-T-like protein 3) (pp-GaNTase-like protein 3) (Protein-UDP acetylgalactosaminyltransferase-like protein 3) (UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase-like protein 3) (Williams-Beuren syndrome chromosomal region 17 protein)	WBSCR17 GALNTL3	Homo sapiens (Human)	598
Q9UHL9	GT2D1_HUMAN	General transcription factor II-I repeat doma... General transcription factor II-I repeat domain-containing protein 1 (GTF2I repeat domain-containing protein 1) (General transcription factor III) (MusTRD1/BEN) (Muscle TFII-I repeat domain-containing protein 1) (Slow-muscle-fiber enhancer-binding protein) (USE B1-binding protein) (Williams-Beuren syndrome chromosomal region 11 protein) (Williams-Beuren syndrome chromosomal region 12 protein)	GTF2IRD1 CREAM1 GTF3 MUSTRD1 RBAP2 WBSCR11 WBSCR12	Homo sapiens (Human)	959
Q86UP8	GTD2A_HUMAN	General transcription factor II-I repeat doma... General transcription factor II-I repeat domain-containing protein 2A (GTF2I repeat domain-containing protein 2A) (Transcription factor GTF2IRD2-alpha)	GTF2IRD2 GTF2IRD2A	Homo sapiens (Human)	949
Q6EKJ0	GTD2B_HUMAN	General transcription factor II-I repeat doma... General transcription factor II-I repeat domain-containing protein 2B (GTF2I repeat domain-containing protein 2B) (Transcription factor GTF2IRD2-beta)	GTF2IRD2B	Homo sapiens (Human)	949
P78347	GTF2I_HUMAN	General transcription factor II-I General transcription factor II-I (GTFII-I) (TFII-I) (Bruton tyrosine kinase-associated protein 135) (BAP-135) (BTK-associated protein 135) (SRF-Phox1-interacting protein) (SPIN) (Williams-Beuren syndrome chromosomal region 6 protein)	GTF2I BAP135 WBSCR6	Homo sapiens (Human)	998
Q15056	IF4H_HUMAN	Eukaryotic translation initiation factor 4H Eukaryotic translation initiation factor 4H (eIF-4H) (Williams-Beuren syndrome chromosomal region 1 protein)	EIF4H KIAA0038 WBSCR1 WSCR1	Homo sapiens (Human)	248
P53667	LIMK1_HUMAN	LIM domain kinase 1 LIM domain kinase 1 (LIMK-1) (EC 2.7.11.1)	LIMK1 LIMK	Homo sapiens (Human)	647
Q9NP71	MLXPL_HUMAN	Carbohydrate-responsive element-binding prote... Carbohydrate-responsive element-binding protein (ChREBP) (Class D basic helix-loop-helix protein 14) (bHLHd14) (MLX interactor) (MLX-interacting protein-like) (WS basic-helix-loop-helix leucine zipper protein) (WS-bHLH) (Williams-Beuren syndrome chromosomal region 14 protein)	MLXIPL BHLHD14 MIO WBSCR14	Homo sapiens (Human)	852
Q3KNT7	NSN5B_HUMAN	Putative NOL1/NOP2/Sun domain family member 5... Putative NOL1/NOP2/Sun domain family member 5B (Williams-Beuren syndrome chromosomal region 20B protein)	NSUN5P1 NSUN5B WBSCR20B	Homo sapiens (Human)	163
Q63ZY6	NSN5C_HUMAN	Putative methyltransferase NSUN5C Putative methyltransferase NSUN5C (EC 2.1.1.-) (NOL1/NOP2/Sun domain family member 5C) (Williams-Beuren syndrome chromosomal region 20C protein)	NSUN5P2 NSUN5C WBSCR20B WBSCR20C	Homo sapiens (Human)	315
Q96P11	NSUN5_HUMAN	Putative methyltransferase NSUN5 Putative methyltransferase NSUN5 (EC 2.1.1.-) (NOL1-related protein) (NOL1R) (NOL1/NOP2/Sun domain family member 5) (Williams-Beuren syndrome chromosomal region 20A protein)	NSUN5 WBSCR20 WBSCR20A	Homo sapiens (Human)	429
Q9GZY6	NTAL_HUMAN	Linker for activation of T-cells family membe... Linker for activation of T-cells family member 2 (Linker for activation of B-cells) (Membrane-associated adapter molecule) (Non-T-cell activation linker) (Williams-Beuren syndrome chromosomal region 15 protein) (Williams-Beuren syndrome chromosomal region 5 protein)	LAT2 LAB NTAL WBS15 WBSCR15 WBSCR5 HSPC046	Homo sapiens (Human)	243
P35250	RFC2_HUMAN	Replication factor C subunit 2 Replication factor C subunit 2 (Activator 1 40 kDa subunit) (A1 40 kDa subunit) (Activator 1 subunit 2) (Replication factor C 40 kDa subunit) (RF-C 40 kDa subunit) (RFC40)	RFC2	Homo sapiens (Human)	354
Q8NFV5	SPDE1_HUMAN	Speedy protein E1 Speedy protein E1 (Williams-Beuren syndrome chromosomal region 19 protein)	SPDYE1 WBSCR19	Homo sapiens (Human)	336
Q16623	STX1A_HUMAN	Syntaxin-1A Syntaxin-1A (Neuron-specific antigen HPC-1)	STX1A STX1	Homo sapiens (Human)	288
Q9Y4P3	TBL2_HUMAN	Transducin beta-like protein 2 Transducin beta-like protein 2 (WS beta-transducin repeats protein) (WS-betaTRP) (Williams-Beuren syndrome chromosomal region 13 protein)	TBL2 WBSCR13 UNQ563/PRO1125	Homo sapiens (Human)	447

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