KEGG   Homo sapiens (human): 56172
Entry
56172             CDS       T01001                                 
Symbol
ANKH, ANK, CCAL2, CMDJ, CPPDD, HANK, MANK, SLC62A1
Name
(RefSeq) ANKH inorganic pyrophosphate transport regulator
  KO
K22734  progressive ankylosis protein
Organism
hsa  Homo sapiens (human)
Disease
H00491  Craniometaphyseal dysplasia
H01236  Familial articular chondrocalcinosis
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   02000 Transporters [BR:hsa02000]
    56172 (ANKH)
Transporters [BR:hsa02000]
 Solute carrier family (SLC)
  SLC62: Pyrophosphate transporter
   56172 (ANKH)
SSDB
Motif
Pfam: ANKH UCR_Fe-S_N
Other DBs
NCBI-GeneID: 56172
NCBI-ProteinID: NP_473368
OMIM: 605145
HGNC: 15492
Ensembl: ENSG00000154122
Pharos: Q9HCJ1(Tbio)
UniProt: Q9HCJ1
Position
5:complement(14704800..14871778)
AA seq 492 aa
MVKFPALTHYWPLIRFLVPLGITNIAIDFGEQALNRGIAAVKEDAVEMLASYGLAYSLMK
FFTGPMSDFKNVGLVFVNSKRDRTKAVLCMVVAGAIAAVFHTLIAYSDLGYYIINKLHHV
DESVGSKTRRAFLYLAAFPFMDAMAWTHAGILLKHKYSFLVGCASISDVIAQVVFVAILL
HSHLECREPLLIPILSLYMGALVRCTTLCLGYYKNIHDIIPDRSGPELGGDATIRKMLSF
WWPLALILATQRISRPIVNLFVSRDLGGSSAATEAVAILTATYPVGHMPYGWLTEIRAVY
PAFDKNNPSNKLVSTSNTVTAAHIKKFTFVCMALSLTLCFVMFWTPNVSEKILIDIIGVD
FAFAELCVVPLRIFSFFPVPVTVRAHLTGWLMTLKKTFVLAPSSVLRIIVLIASLVVLPY
LGVHGATLGVGSLLAGFVGESTMVAIAACYVYRKQKKKMENESATEGEDSAMTDMPPTEE
VTDIVEMREENE
NT seq 1479 nt   +upstreamnt  +downstreamnt
atggtgaaattcccggcgctcacgcactactggcccctgatccggttcttggtgcccctg
ggcatcaccaacatagccatcgacttcggggagcaggccttgaaccggggcattgctgct
gtcaaggaggatgcagtcgagatgctggccagctacgggctggcgtactccctcatgaag
ttcttcacgggtcccatgagtgacttcaaaaatgtgggcctggtgtttgtgaacagcaag
agagacaggaccaaagccgtcctgtgtatggtggtggcaggggccatcgctgccgtcttt
cacacactgatagcttatagtgatttaggatactacattatcaataaactgcaccatgtg
gacgagtcggtggggagcaagacgagaagggccttcctgtacctcgccgcctttcctttc
atggacgcaatggcatggacccatgctggcattctcttaaaacacaaatacagtttcctg
gtgggatgtgcctcaatctcagatgtcatagctcaggttgtttttgtagccattttgctt
cacagtcacctggaatgccgggagcccctgctcatcccgatcctctccttgtacatgggc
gcacttgtgcgctgcaccaccctgtgcctgggctactacaagaacattcacgacatcatc
cctgacagaagtggcccggagctggggggagatgcaacaataagaaagatgctgagcttc
tggtggcctttggctctaattctggccacacagagaatcagtcggcctattgtcaacctc
tttgtttcccgggaccttggtggcagttctgcagccacagaggcagtggcgattttgaca
gccacataccctgtgggtcacatgccatacggctggttgacggaaatccgtgctgtgtat
cctgctttcgacaagaataaccccagcaacaaactggtgagcacgagcaacacagtcacg
gcagcccacatcaagaagttcaccttcgtctgcatggctctgtcactcacgctctgtttc
gtgatgttttggacacccaacgtgtctgagaaaatcttgatagacatcatcggagtggac
tttgcctttgcagaactctgtgttgttcctttgcggatcttctccttcttcccagttcca
gtcacagtgagggcgcatctcaccgggtggctgatgacactgaagaaaaccttcgtcctt
gcccccagctctgtgctgcggatcatcgtcctcatcgccagcctcgtggtcctaccctac
ctgggggtgcacggtgcgaccctgggcgtgggctccctcctggcgggctttgtgggagaa
tccaccatggtcgccatcgctgcgtgctatgtctaccggaagcagaaaaagaagatggag
aatgagtcggccacggagggggaagactctgccatgacagacatgcctccgacagaggag
gtgacagacatcgtggaaatgagagaggagaatgaataa

  All links  
Ontology (2)   
   KEGG BRITE (2)   
Disease (5)   
   KEGG DISEASE (2)   
   OMIM (3)   
Genome (1)   
   KEGG GENOME (1)   
Gene (13)   
   KEGG ORTHOLOGY (1)   
   RefGene (3)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (3)   
   OC (1)   
   PHAROS (1)   
Protein sequence (6)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (4)   
DNA sequence (32)   
   RefSeq(nuc) (4)   
   GenBank (14)   
   EMBL (14)   
Protein domain (2)   
   Pfam (2)   
All databases (61)   

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