4
LOCUS_TYPE: gene with protein product, function known or inferred
7
NM: NM_001091|4501850|na
9
CDD: Copper amine oxidase|pfam01179|1775|na|6.883370e+02
10
PRODUCT: amiloride binding protein 1 precursor
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
19
ACCNUM: BC014093|15559450|na|na|na
21
PROT: AAH14093|15559451
22
ACCNUM: M55602|387655|na|na|na
25
ACCNUM: U11862|533535|na|na|na
28
ACCNUM: U11863|533537|na|na|na
32
OFFICIAL_GENE_NAME: amiloride binding protein 1 (amine oxidase (copper-containing))
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.
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
46
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=75741
49
MAP: 7q34-q36|RefSeq|C|
50
MAPLINK: default_human_gene|ABP1
52
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=26
54
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=26[loc]&TAXID=9606
56
LINK: http://gdbwww.gdb.org/gdb-bin/genera/accno?GDB:127105
58
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_001091
60
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?db=hg12&position=NM_001091
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
92
LOCUS_TYPE: gene with protein product, function known or inferred
93
ORGANISM: Homo sapiens
95
NM: NM_005158|6382059|na
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.
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.
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
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)
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.
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
135
ALIAS_PROT: Abelson murine leukemia viral (v-abl) oncogene homolog 2 (arg,
138
LINK: http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=121521
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
146
LINK: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=27
148
LINK: http://www.ncbi.nlm.nih.gov/HomoloGene/homolquery.cgi?TEXT=27[loc]&TAXID=9606
150
LINK: http://gdbwww.gdb.org/gdb-bin/genera/accno?GDB:119641
152
LINK: http://www.ensembl.org/Homo_sapiens/contigview?geneid=NM_007314
154
LINK: http://genome.ucsc.edu/cgi-bin/hgTracks?db=hg12&position=NM_007314
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