| blob | 4973ad5aa75277b41f7577275ff6328ce63078cf |
1 >>26
2 LOCUSID: 26
3 LOCUS_CONFIRMED: yes
4 LOCUS_TYPE: gene with protein product, function known or inferred
5 ORGANISM: Homo sapiens
6 STATUS: REVIEWED
7 NM: NM_001091|4501850|na
8 NP: NP_001082|4501851
9 CDD: Copper amine oxidase|pfam01179|1775|na|6.883370e+02
10 PRODUCT: amiloride binding protein 1 precursor
11 ASSEMBLY: X78212
12 CONTIG: NT_007914.10|22047859|na|11083771|11092582|+|7|reference
13 EVID: supported by alignment with mRNA
14 XM: XM_032220|14745402|na
15 XP: XP_032220|14745403|na
16 ACCNUM: X78212|463242|na|na|na
17 TYPE: g
18 PROT: CAA55046|463243
19 ACCNUM: BC014093|15559450|na|na|na
20 TYPE: m
21 PROT: AAH14093|15559451
22 ACCNUM: M55602|387655|na|na|na
23 TYPE: m
24 PROT: AAA58358|177960
25 ACCNUM: U11862|533535|na|na|na
26 TYPE: m
27 PROT: AAC50270|533536
28 ACCNUM: U11863|533537|na|na|na
29 TYPE: m
30 PROT: AAB60381|533538
31 OFFICIAL_SYMBOL: ABP1
32 OFFICIAL_GENE_NAME: amiloride binding protein 1 (amine oxidase (copper-containing))
33 ALIAS_SYMBOL: DAO
34 ALIAS_SYMBOL: AOC1
35 PREFERRED_PRODUCT: amiloride binding protein 1 precursor
36 SUMMARY: Summary: This gene encodes a membrane glycoprotein that binds amiloride, a diuretic that acts by closing epithelial sodium ion channels. Experimental evidence indicates, however, that the formation of an amiloride sensitive, sodium channel requires complex formation with additional proteins. Although an association was proposed between this gene and cystic fibrosis, a disorder involving sodium and water imbalance in the lungs, genetic evidence showed that it was not involved in producing that disorder.
37 CHR: 7
38 STS: RH71199|7|8014|na|seq_map|epcr
39 STS: ABP1|7|32801|ABP1|seq_map|epcr
40 COMP: 10090|Abp1|6|6 cM|76507|7|ABP1|ncbi_mgd
41 COMP: 10090|1600012D06Rik|6|6 cM|76507|7|ABP1|ucsc_mgd
42 ALIAS_PROT: diamine oxidase
43 ALIAS_PROT: Amiloride-binding protein-1
44 UNIGENE: Hs.75741
45 BUTTON: unigene.gif
46 LINK: https://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=75741
47 OMIM: 104610
48 ECNUM: 1.4.3.6
49 MAP: 7q34-q36|RefSeq|C|
50 MAPLINK: default_human_gene|ABP1
51 BUTTON: snp.gif
52 LINK: https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=26
53 BUTTON: homol.gif
54 LINK: https://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=26[loc]&TAXID=9606
55 BUTTON: gdb.gif
56 LINK: http://gdbwww.gdb.org/gdb-bin/genera/accno?GDB:127105
57 BUTTON: ensembl.gif
58 LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001091
59 BUTTON: ucsc.gif
60 LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?db=hg12&position=NM_001091
61 DB_DESCR: GeneCards
62 DB_LINK: http://bioinformatics.weizmann.ac.il/cards-bin/carddisp?ABP1
63 DB_DESCR: KEGG pathway: Tyrosine metabolism
64 DB_LINK: http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00350
65 DB_DESCR: KEGG pathway: Histidine metabolism
66 DB_LINK: http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00340
67 DB_DESCR: KEGG pathway: Tryptophan metabolism
68 DB_LINK: http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00380
69 DB_DESCR: KEGG pathway: beta-Alanine metabolism
70 DB_LINK: http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00410
71 DB_DESCR: KEGG pathway: Alkaloid biosynthesis II
72 DB_LINK: http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00960
73 DB_DESCR: KEGG pathway: Phenylalanine metabolism
74 DB_LINK: http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00360
75 DB_DESCR: KEGG pathway: Arginine and proline metabolism
76 DB_LINK: http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00330
77 DB_DESCR: KEGG pathway: Glycine, serine and threonine metabolism
78 DB_LINK: http://www.genome.ad.jp/dbget-bin/get_pathway?org_name=hsa&mapno=00260
79 PMID: 11603849,8595053,8182053,8144586,2217167,1356107
80 GRIF: 11603849|could be detected at the feto-maternal interface of human
81 SUMFUNC: Diamine oxidase (D-amino-acid oxidase histaminase, amiloride-binding protein); deaminates putrescine and histamine|Proteome
82 GO: biological process|metabolism|NR|GO:0008152|Proteome|na
83 GO: cellular component|peroxisome|NR|GO:0005777|Proteome|na
84 GO: molecular function|amine oxidase|E|GO:0008131|Proteome|8144586
85 GO: molecular function|drug binding|NR|GO:0008144|Proteome|na
86 EXTANNOT: cellular role|Other metabolism|E|Proteome|1356107
87 EXTANNOT: biochemical function|Oxidoreductase|E|Proteome|1356107
88 EXTANNOT: biochemical function|Small molecule-binding protein|E|Proteome|8182053
89 >>27
90 LOCUSID: 27
91 LOCUS_CONFIRMED: yes
92 LOCUS_TYPE: gene with protein product, function known or inferred
93 ORGANISM: Homo sapiens
94 STATUS: REVIEWED
95 NM: NM_005158|6382059|na
96 NP: NP_005149|6382060
97 PRODUCT: v-abl Abelson murine leukemia viral oncogene homolog 2 isoform a
98 TRANSVAR: Transcript Variant: Transcript variant a includes the alternate exon IA, but not exon IB and encodes a distinct N-terminus.
99 ASSEMBLY: M35296
100 NM: NM_007314|6382061|na
101 NP: NP_009298|6382062
102 CDD: SH3 domain|pfam00018|180|na|7.394420e+01
103 CDD: Src homology 2 domains|SH2|229|na|9.281890e+01
104 CDD: Src homology 3 domains|SH3|128|na|5.391380e+01
105 CDD: Src homology domain 2|pfam00017|212|na|8.627050e+01
106 CDD: Tyrosine kinase, catalytic domain|TyrKc|869|na|3.393470e+02
107 CDD: Eukaryotic protein kinase domain|pfam00069|510|na|2.010600e+02
108 CDD: Serine/Threonine protein kinases, catalytic domain|S_TKc|417|na|1.652360e+02
109 PRODUCT: v-abl Abelson murine leukemia viral oncogene homolog 2 isoform b
110 TRANSVAR: Transcript Variant: Transcript variant a includes the alternate exon IB, but not exon IA and encodes a distinct N-terminus.
111 ASSEMBLY: M35296
112 CONTIG: NT_004487.12|22045208|na|4192865|4314849|-|1|reference
113 EVID: supported by alignment with mRNA
114 XM: NM_005158|6382059|na
115 XP: NP_005149|6382060|na
116 EVID: supported by alignment with both mRNA and ESTs (5)
117 XM: NM_007314|6382061|na
118 XP: NP_009298|6382062|na
119 ACCNUM: M35296|178992|na|na|na
120 TYPE: m
121 PROT: AAA35553|178993
122 OFFICIAL_SYMBOL: ABL2
123 OFFICIAL_GENE_NAME: v-abl Abelson murine leukemia viral oncogene homolog 2 (arg, Abelson-related gene)
124 ALIAS_SYMBOL: ARG
125 ALIAS_SYMBOL: ABLL
126 PREFERRED_PRODUCT: v-abl Abelson murine leukemia viral oncogene homolog 2 isoform a
127 PREFERRED_PRODUCT: v-abl Abelson murine leukemia viral oncogene homolog 2 isoform b
128 SUMMARY: Summary: ABL2 is a cytoplasmic tyrosine kinase which is closely related to but distinct from ABL1. The similarity of the proteins includes the tyrosine kinase domains and extends amino-terminal to include the SH2 and SH3 domains. ABL2 is expressed in both normal and tumor cells. The ABL2 gene product is expressed as two variants bearing different amino termini, both approximately 12-kb in length.
129 CHR: 1
130 STS: RH69130|1|3401|na|seq_map|epcr
131 STS: RH66836|1|44261|na|seq_map|epcr
132 COMP: 10090|Abl2|1|1 82.10 cM|11352|1|ABL2|ncbi_mgd
133 COMP: 10090|Abl2|1|1 82.10 cM|11352|1|ABL2|ucsc_mgd
134 ALIAS_PROT: arg
135 ALIAS_PROT: Abelson murine leukemia viral (v-abl) oncogene homolog 2 (arg,
136 UNIGENE: Hs.121521
137 BUTTON: unigene.gif
138 LINK: https://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=121521
139 OMIM: 164690
140 ECNUM: 2.7.1.112
141 MAP: 1q24-q25|<a href="http://gdbwww.gdb.org/gdb-bin/genera/accno?GDB:119641">HUGO</a>|C|
142 MAPLINK: default_human_gene|ABL2
143 PHENOTYPE: Leukemia, acute myeloid, with eosinophilia
144 PHENOTYPE_ID: 164690
145 BUTTON: snp.gif
146 LINK: https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=27
147 BUTTON: homol.gif
148 LINK: https://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=27[loc]&TAXID=9606
149 BUTTON: gdb.gif
150 LINK: http://gdbwww.gdb.org/gdb-bin/genera/accno?GDB:119641
151 BUTTON: ensembl.gif
152 LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_007314
153 BUTTON: ucsc.gif
154 LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?db=hg12&position=NM_007314
155 DB_DESCR: GeneCards
156 DB_LINK: http://bioinformatics.weizmann.ac.il/cards-bin/carddisp?ABL2
157 PMID: 3787260,2198571
158 SUMFUNC: Cytoplasmic tyrosine kinase of the Abelson subfamily; contains SH2 and SH3 domains and has similarity to ABL1|Proteome
159 GO: cellular component|cytoplasm|NR|GO:0005737|Proteome|na
160 GO: molecular function|protein kinase|P|GO:0004672|Proteome|2198571
161 GO: biological process|signal transduction|P|GO:0007165|Proteome|2198571
162 GO: biological process|protein modification|P|GO:0006464|Proteome|2198571
163 EXTANNOT: biochemical function|Transferase|P|Proteome|2198571
164 EXTANNOT: subcellular localization|Cytoplasmic|NR|Proteome|2198571