Entry HUMAN18693 (MKKS_HUMAN)

E Homo sapiens


General Information

Description
McKusick-Kaufman syndrome [Source:HGNC Symbol;Acc:HGNC:7108]
Organism
HUMAN - Homo sapiens (Taxon-ID: 9606)
Locus
20join(complement(10412530..10413514), complement(10408628..10408803), complement(10407616..10407726), complement(10405247..10405687))
Number of exons
4
Alternative splicing
HUMAN18694

IDs and Cross-references

loading xrefs...

Domain Architecture

Gene Ontology

loading GO annotations...

Protein Sequence

Download: Fasta
MSRLEAKKPS LCKSEPLTTE RVRTTLSVLK RIVTSCYGPS GRLKQLHNGF GGYVCTTSQS    60
SALLSHLLVT HPILKILTAS IQNHVSSFSD CGLFTAILCC NLIENVQRLG LTPTTVIRLN   120
KHLLSLCISY LKSETCGCRI PVDFSSTQIL LCLVRSILTS KPACMLTRKE TEHVSALILR   180
AFLLTIPENA EGHIILGKSL IVPLKGQRVI DSTVLPGILI EMSEVQLMRL LPIKKSTALK   240
VALFCTTLSG DTSDTGEGTV VVSYGVSLEN AVLDQLLNLG RQLISDHVDL VLCQKVIHPS   300
LKQFLNMHRI IAIDRIGVTL MEPLTKMTGT QPIGSLGSIC PNSYGSVKDV CTAKFGSKHF   360
FHLIPNEATI CSLLLCNRND TAWDELKLTC QTALHVLQLT LKEPWALLGG GCTETHLAAY   420
IRHKTHNDPE SILKDDECTQ TELQLIAEAF CSALESVVGS LEHDGGEILT DMKYGHLWSV   480
QADSPCVANW PDLLSQCGCG LYNSQEELNW SFLRSTRRPF VPQSCLPHEA VGSASNLTLD   540
CLTAKLSGLQ VAVETANLIL DLSYVIEDKN                                    570

Coding Sequence

Download: Fasta
ATGTCTCGTT TGGAAGCTAA GAAGCCATCA TTGTGTAAGA GTGAACCACT GACAACTGAG    60
AGAGTCAGGA CCACACTTTC TGTCTTGAAA AGAATTGTAA CATCATGCTA TGGCCCCTCA   120
GGTAGGCTGA AGCAGCTGCA CAATGGCTTT GGAGGTTACG TGTGTACAAC CTCACAGTCC   180
TCAGCTCTGC TCAGTCACCT TTTGGTCACA CATCCCATTT TAAAGATCCT GACAGCCTCC   240
ATACAGAATC ATGTGTCAAG CTTCAGTGAT TGTGGCTTAT TCACAGCTAT TCTTTGCTGC   300
AACCTGATTG AAAATGTTCA GAGATTAGGC TTGACACCCA CCACTGTCAT TAGATTAAAT   360
AAACATCTTT TGAGTCTTTG CATCAGTTAT CTCAAGTCTG AGACCTGTGG TTGTCGAATC   420
CCAGTGGACT TTAGTAGTAC TCAGATCCTC CTTTGTTTGG TGCGTAGTAT ATTAACAAGT   480
AAACCTGCCT GTATGCTCAC CAGAAAGGAA ACAGAGCATG TCAGTGCTTT GATCCTGAGA   540
GCCTTTTTGC TTACAATTCC AGAAAATGCT GAAGGCCACA TCATTTTAGG AAAGAGTTTA   600
ATTGTACCTT TAAAAGGTCA AAGAGTTATA GATTCCACTG TATTACCTGG GATACTCATT   660
GAAATGTCAG AAGTTCAATT AATGAGGCTA TTACCTATCA AAAAATCAAC TGCCCTCAAG   720
GTGGCACTCT TTTGTACAAC TTTATCCGGA GACACTTCTG ACACTGGAGA AGGAACTGTG   780
GTGGTCAGTT ATGGGGTTTC TCTTGAAAAT GCAGTCTTGG ACCAGCTGCT TAACCTAGGA   840
AGGCAGCTAA TCAGTGACCA CGTAGATCTT GTCCTGTGCC AAAAAGTTAT ACATCCATCT   900
TTGAAGCAGT TTCTCAATAT GCATCGTATT ATTGCCATAG ACAGAATTGG AGTGACTCTG   960
ATGGAACCCC TGACTAAAAT GACAGGAACA CAGCCTATTG GATCCCTAGG CTCAATATGT  1020
CCTAATAGTT ATGGAAGTGT GAAAGATGTG TGCACTGCAA AATTTGGCTC CAAACATTTT  1080
TTTCATCTTA TTCCTAATGA AGCAACAATC TGCAGCTTGC TTCTCTGCAA CAGAAATGAC  1140
ACTGCCTGGG ATGAGCTGAA GCTCACGTGT CAGACGGCAC TGCATGTCCT GCAGTTAACA  1200
CTCAAGGAAC CATGGGCTTT GTTGGGAGGT GGCTGTACTG AAACTCATTT GGCTGCATAT  1260
ATCAGACACA AGACTCACAA CGACCCAGAA AGCATTCTCA AAGATGATGA ATGTACTCAA  1320
ACAGAACTTC AATTAATTGC TGAAGCATTT TGCAGTGCCC TAGAATCTGT TGTTGGCTCT  1380
TTAGAACATG ATGGAGGTGA AATTCTCACT GACATGAAGT ATGGACACCT TTGGTCAGTT  1440
CAGGCAGATT CTCCCTGTGT TGCTAACTGG CCAGATTTGC TTTCACAGTG TGGCTGTGGA  1500
TTATACAATA GCCAGGAAGA ACTCAACTGG TCTTTCTTAA GAAGCACACG TCGTCCATTT  1560
GTGCCACAAA GCTGCCTTCC ACATGAAGCT GTGGGCTCAG CCAGCAACCT GACCTTGGAC  1620
TGTTTGACTG CAAAGCTTAG TGGCCTACAG GTGGCTGTAG AGACAGCCAA TTTGATTTTG  1680
GATCTTTCAT ATGTTATTGA AGATAAAAAC TAA                               1713