KEGG   Homo sapiens (human): 54084
Entry
54084             CDS       T01001                                 
Symbol
TSPEAR, C21orf29, DFNB98, ECTD14, STHAG10, TSP-EAR
Name
(RefSeq) thrombospondin type laminin G domain and EAR repeats
  KO
K24437  thrombospondin-type laminin G domain and EAR repeat-containing protein
Organism
hsa  Homo sapiens (human)
Disease
H00605  Deafness, autosomal recessive
H00625  Tooth agenesis
H02456  Ectodermal dysplasia
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   03037 Cilium and associated proteins [BR:hsa03037]
    54084 (TSPEAR)
   04990 Domain-containing proteins not elsewhere classified [BR:hsa04990]
    54084 (TSPEAR)
Cilium and associated proteins [BR:hsa03037]
 Other cilia and associated proteins
  Stereociliary proteins
   54084 (TSPEAR)
Domain-containing proteins not elsewhere classified [BR:hsa04990]
 Thrombospondin domain-containing proteins
  Other thrombospondin domain-containing proteins
   54084 (TSPEAR)
SSDB
Motif
Pfam: EPTP
Other DBs
NCBI-GeneID: 54084
NCBI-ProteinID: NP_659428
OMIM: 612920
HGNC: 1268
Ensembl: ENSG00000175894
UniProt: Q8WU66
Position
21:complement(44497893..44711572)
AA seq 669 aa
MSALLSLCFVLPLAAPGHGTQGWEPCTDLRPLDILAEVVPSDGATSGIRIVQVHGARGLQ
LSVAAPRTMSFPASRIFSQCDLFPEEFSIVVTLRVPNLPPKRNEYLLTVVAEESDLLLLG
LRLSPAQLHFLFLREDTAGAWQTRVSFRSPALVDGRWHTLVLAVSAGVFSLTTDCGLPVD
IMADVPFPATLSVKGARFFVGSRRRAKGLFMGLVRQLVLLPGSDATPRLCPSRNAPLAVL
SIPRVLQALTGKPEDNEVLKYPYETNIRVTLGPQPPCTEVEDAQFWFDASRKGLYLCVGN
EWVSVLAAKERLDYVEEHQNLSTNSETLGIEVFRIPQVGLFVATANRKATSAVYKWTEEK
FVSYQNIPTHQAQAWRHFTIGKKIFLAVANFEPDEKGQEFSVIYKWSHRKLKFTPYQSIA
THSARDWEAFEVDGEHFLAVANHREGDNHNIDSVIYKWNPATRLFEANQTIATSGAYDWE
FFSVGPYSFLVVANTFNGTSTKVHSHLYIRLLGSFQLFQSFPTFGAADWEVFQIGERIFL
AVANSHSYDVEMQVQNDSYVINSVIYELNVTAQAFVKFQDILTCSALDWEFFSVGEDYFL
VVANSFDGRTFSVNSIIYRWQGYEGFVAVHSLPTVGCRDWEAFSTTAGAYLIYSSAKEPL
SRVLRLRTR
NT seq 2010 nt   +upstreamnt  +downstreamnt
atgtctgccctgctgagtctgtgttttgtgctgcccctggcggcccccggccacggcacg
cagggttgggagccctgcacagacctgcgccccctggacatcctggcggaagtggtccct
tctgatggcgccacaagcgggatcaggatagttcaggttcacggtgcacggggactccag
ctctcagtagccgccccccgcaccatgagcttcccagcatccaggattttctcccagtgt
gacctcttccctgaagaattttccatcgtcgtaactttgagagttcccaatcttccaccc
aagaggaacgagtacctgctgacggtggtggcagaggagagcgacctgctgctgctcggc
ctgcggttgtcacctgcccagctgcacttcctgttccttcgcgaggacacggccggcgcc
tggcagacccgagtgtccttccgcagcccggccctggtggatggccgctggcacacactg
gtcctggctgtgtccgcaggcgtcttctccctcaccacggactgcggcctcccggtggac
ataatggccgatgtgcccttcccagccaccctgtcagtgaaaggagctcgattcttcgtc
ggcagccggaggagagccaaaggcctgttcatgggactggtgaggcaactggtcctgctg
ccgggctcagacgccaccccaaggctgtgtcccagcaggaacgccccgctggcggtgctg
tccatcccacgggtcctgcaggctctcacggggaagccagaagataacgaggtgctaaaa
tatccctatgaaaccaacattcgagtgacgctgggaccccagccaccgtgtaccgaggtg
gaagacgcccagttctggtttgatgccagccggaagggcctgtatctgtgtgttggcaac
gagtgggtctccgtgttagcagccaaagaaagactggactacgtggaggagcatcagaac
ttgtccaccaactcagagaccctgggcattgaggtgttccgcatccctcaggtggggctc
tttgtggccacagccaatcgcaaagccacatccgccgtctacaagtggaccgaagagaag
ttcgtctcatatcagaacatccccacgcaccaagcacaggcctggaggcatttcaccatc
gggaaaaagatcttcctggcagtggctaattttgaaccagatgagaagggtcaggagttc
tctgtcatttacaaatggagccacagaaagctgaagtttaccccatatcagagcattgcc
acacacagcgcccgagactgggaggccttcgaggtggatggggagcacttcctggcggtg
gccaaccaccgggaaggcgacaaccacaacatcgacagtgtcatctacaagtggaacccg
gcaacccggctcttcgaggccaaccagaccatcgccacctccggcgcctacgactgggag
ttcttcagtgtggggccctactcgttcctggtggtggccaacaccttcaacggcacctcc
accaaggtgcactcgcacctctacatccgactcctgggctccttccagctcttccagtcc
ttcccgacgttcggtgctgcagactgggaggtcttccagatcggggagaggatcttcctc
gctgtggcaaacagtcacagctacgatgtggagatgcaagtccagaatgattcctatgtc
atcaactccgtcatctacgagctgaacgtgaccgcgcaggcctttgtcaagttccaggac
attctcacctgcagtgctctggactgggagtttttctcggtgggagaagattatttcctg
gtggtggccaactccttcgatgggcgtaccttctcggtgaacagtattatttacaggtgg
cagggctacgagggcttcgtggcggtgcacagcctccccaccgtcggctgcagggactgg
gaggccttcagcaccacggctggtgcctacctcatctactccagcgccaaggagcccctc
tccagggtcctgcggctgaggacacgctga

  All links  
Ontology (3)   
   KEGG BRITE (3)   
Disease (7)   
   KEGG DISEASE (3)   
   OMIM (4)   
Genome (1)   
   KEGG GENOME (1)   
Gene (20)   
   KEGG ORTHOLOGY (1)   
   RefGene (13)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (1)   
   OC (1)   
Protein sequence (4)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (2)   
DNA sequence (10)   
   RefSeq(nuc) (2)   
   GenBank (4)   
   EMBL (4)   
Protein domain (1)   
   Pfam (1)   
All databases (46)   

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