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Gene Model: Slc25a15

NomenclatureGenomic Location
SymbolSlc25a15Chromosome1
NameOrnithine transporterLinkage mapunknown
SpeciesDracomimus familiarisGenome Coordinates1: 61 Mbp

Molecular Function

Ornithine transport across inner mitochondrial membrane, from the cytoplasm to the matrix.

Molecular Function Terms:

transporter activity
   substrate-specific transporter activity
      substrate-specific transmembrane transporter activity
         amino acid transmembrane transporter activity

Human Disease Association

Defects in SLC25A15 are the cause of hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH syndrome) [MIM:238970]. It is an autosomal recessive disorder resulting in various neurologic symptoms, including mental retardation, spastic paraparesis with pyramidal signs, cerebellar ataxia, and episodic disturbance of consciousness or coma caused by hyperammonemia. It causes a functional impairment of the urea cycle.

Predicted Transcript
     1 ATGGCGCCACATCCGGTGGTTCAGGCAGTTATAGACCTCTCTGCTGGCGCTATAGGGGGT
    61 GCAGCTTGTGTATTTAGTGGTCAACCTTTGGACACGGCGAAGGTGAAAATGCAGACGTTT
   121 CCCACATTGTACAGAGGTTTTGTGGACTGCTTCGTGTCCACATACAGACAGGTGGGCCTT
   181 CGAGGCTTGTATCAAGGCACCACACCGGCCCTCATGGCCAACATCGCAGAGAACTCTGTG
   241 CTCTTCATGTGCTACGGCTTTTGCCAGGAGGTGGTTCGCTTTGTCTCTGGACAGGGGAAA
   301 GGGGCTGAGCTGAGGCACGTTCAGTTTATTGATATGCAGAAAGCGTGCGCGGGCTCTGTG
   361 GCCTCTGTGTTCTCCTCTCTGGTCTTGTGTCCCACTGAGCTGGTGAAGTGTCGACTGCAG
   421 GCAATGCATGAGATGGCATCCTCCGGCAAGATCACCCAAAGCCAGAACACAGTTTGGTCG
   481 GTGATGAAGTCCATTATGCATAATGATGGTCCTGCAGGTTTCTTCCAGGGTTTGACCACA
   541 ACCATTGCCCGTGAGGTGCCTGGGTATTTCTGTTTTTTTGGAGCGTACGAGCTTTGCCGC
   601 TCTCTCTTTGCCGACTACATGCACTGTGGCAAGGATGACATAGGTGTCGCACCCATCGTG
   661 TTCAGTGGAGGTTTTGGTGGAGCTTGTCTCTGGCTGGTGGTTTACCCAATGGACTGTGTT
   721 AAATCCAGGATACAGGTCATGTCGATGACAGGCAGACAATCAGGCTTCTTCAAGACTTTC
   781 ATGCATATCTTCAGAACCGAAGGTGTAAGAGCTCTATATTCTGGTCTGACTCCCACTATG
   841 ATTCGGACATTTCCAGCAAACGGTGCACTGTTCTTAGGTTATGAAGCCAGTCGGAAAGTC
   901 ATGATGGCACAGTTTGACAGCTGA

Predicted Protein Product
MAPHPVVQAVIDLSAGAIGGAACVFSGQPLDTAKVKMQTFPTLYRGFVDCFVSTYRQVGL 
RGLYQGTTPALMANIAENSVLFMCYGFCQEVVRFVSGQGKGAELRHVQFNDMQKACAGSV 
ASVFSSLVLCPTELVKCRLQAMHEMASSGKITQSQNTVWSVMKSIMHNDGPAGFFQGLTT 
TIAREVPGYFCFFGAYELCRSLFADYMHCGKDDIGVAPIVFSGGFGGACLWLVVYPMDCV 
KSRIQVMSMTGRQSGFFKTFMHIFRTEGVRALYSGLTPTMIRTFPANGALFLGYEASRKV 
MMAQFDS
Protein Alignment to Mouse
sp|Q9WVD5|ORNT1_MOUSE Mitochondrial ornithine transporter 1 OS=Mus musculus
            GN=Slc25a15 PE=2 SV=1
      MGI:1342274 Slc25a15 solute carrier family 25 (mitochondrial carrier ornithine transporter), member 15 (Chr 8)
        Length = 301

 Score = 1059 (377.8 bits), Expect = 8.8e-108, P = 8.8e-108
 Identities = 200/307 (65%), Positives = 238/307 (77%)

Query:     1 MAPHPVVQAVIDLSAGAIGGAACVFSGQPLDTAKVKMQTFPTLYRGFVDCFVSTYRQVGL 60
             M  +P +QA IDL+AGA GG ACV +GQP DT KVKMQTFP LYRG  DC + TY QVG 
Sbjct:     1 MKSNPAIQAAIDLTAGAAGGTACVLTGQPFDTMKVKMQTFPDLYRGLTDCCLKTYSQVGF 60

Query:    61 RGLYQGTTPALMANIAENSVLFMCYGFCQEVVRFVSGQGKGAELRHVQFNDMQKACAGSV 120
             RG Y+GT+PAL+ANIAENSVLFMCYGFCQ+VVR V G  + A+L     +D+Q A AGS 
Sbjct:    61 RGFYKGTSPALIANIAENSVLFMCYGFCQQVVRKVVGLDQQAKL-----SDLQNAAAGSF 115

Query:   121 ASVFSSLVLCPTELVKCRLQAMHEMASSGKITQSQNTVWSVMKSIMHNDGPAGFFQGLTT 180
             AS F++LVLCPTELVKCRLQ M+EM +SGKI  SQNTVWSV+K I   DGP GF+ GL++
Sbjct:   116 ASAFAALVLCPTELVKCRLQTMYEMETSGKIAASQNTVWSVVKEIFRKDGPLGFYHGLSS 175

Query:   181 TIAREVPGYFCFFGAYELCRSLFADYMHCGKDDIGVAPIVFSGGFGGACLWLVVYPMDCV 240
             T+ REVPGYF FFG YEL RS FA      KD++G  P++ SGGFGG CLWL VYP+DC+
Sbjct:   176 TLLREVPGYFFFFGGYELSRSFFASGR--SKDELGPVPLMLSGGFGGICLWLAVYPVDCI 233

Query:   241 KSRIQVMSMTGRQSGFFKTFMHIFRTEGVRALYSGLTPTMIRTFPANGALFLGYEASRKV 300
             KSRIQV+SMTG+Q+G  +TF+ I + EG+ ALYSGL PTMIR FPANGALFL YE SRK+
Sbjct:   234 KSRIQVLSMTGKQTGLVRTFLSIVKNEGITALYSGLKPTMIRAFPANGALFLAYEYSRKL 293

Query:   301 MMAQFDS 307
             MM Q ++
Sbjct:   294 MMNQLEA 300