ID S2538_HUMAN Reviewed; 304 AA. AC Q96DW6; Q9NWX2; DT 26-JUN-2007, integrated into UniProtKB/Swiss-Prot. DT 01-DEC-2001, sequence version 1. DT 24-JUL-2013, entry version 96. DE RecName: Full=Solute carrier family 25 member 38; GN Name=SLC25A38; OS Homo sapiens (Human). OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; OC Catarrhini; Hominidae; Homo. OX NCBI_TaxID=9606; RN [1] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. RC TISSUE=Carcinoma; RX PubMed=14702039; DOI=10.1038/ng1285; RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S., RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., RA Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., RA Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., RA Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., RA Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., RA Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., RA Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., RA Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., RA Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., RA Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., RA Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., RA Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., RA Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., RA Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., RA Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., RA Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., RA Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., RA Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., RA Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., RA Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.; RT "Complete sequencing and characterization of 21,243 full-length human RT cDNAs."; RL Nat. Genet. 36:40-45(2004). RN [2] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. RA Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.; RT "Cloning of human full open reading frames in Gateway(TM) system entry RT vector (pDONR201)."; RL Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases. RN [3] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. RC TISSUE=Skin; RX PubMed=15489334; DOI=10.1101/gr.2596504; RG The MGC Project Team; RT "The status, quality, and expansion of the NIH full-length cDNA RT project: the Mammalian Gene Collection (MGC)."; RL Genome Res. 14:2121-2127(2004). RN [4] RP IDENTIFICATION. RX PubMed=16949250; DOI=10.1016/j.ygeno.2006.06.016; RA Haitina T., Lindblom J., Renstroem T., Fredriksson R.; RT "Fourteen novel human members of mitochondrial solute carrier family RT 25 (SLC25) widely expressed in the central nervous system."; RL Genomics 88:779-790(2006). RN [5] RP VARIANTS PRARSA GLU-130; HIS-134; PRO-187 AND HIS-209, FUNCTION, AND RP TISSUE SPECIFICITY. RX PubMed=19412178; DOI=10.1038/ng.359; RA Guernsey D.L., Jiang H., Campagna D.R., Evans S.C., Ferguson M., RA Kellogg M.D., Lachance M., Matsuoka M., Nightingale M., Rideout A., RA Saint-Amant L., Schmidt P.J., Orr A., Bottomley S.S., Fleming M.D., RA Ludman M., Dyack S., Fernandez C.V., Samuels M.E.; RT "Mutations in mitochondrial carrier family gene SLC25A38 cause RT nonsyndromic autosomal recessive congenital sideroblastic anemia."; RL Nat. Genet. 41:651-653(2009). CC -!- FUNCTION: Mitochondrial carrier required during erythropoiesis. CC Probably involved in the biosynthesis of heme, possibly by CC facilitating 5-aminolevulinate (ALA) production. May act by CC importing glycine into mitochondria or by exchanging glycine for CC ALA across the mitochondrial inner membrane. CC -!- SUBCELLULAR LOCATION: Mitochondrion inner membrane; Multi-pass CC membrane protein (By similarity). CC -!- TISSUE SPECIFICITY: Preferentially expressed in erythroid cells. CC -!- DISEASE: Anemia, sideroblastic, pyridoxine-refractory, autosomal CC recessive (PRARSA) [MIM:205950]: A form of sideroblastic anemia CC not responsive to pyridoxine. Sideroblastic anemia is CC characterized by anemia of varying severity, hypochromic CC peripheral erythrocytes, systemic iron overload secondary to CC chronic ineffective erythropoiesis, and the presence of bone CC marrow ringed sideroblasts. Sideroblasts are characterized by CC iron-loaded mitochondria clustered around the nucleus. Note=The CC disease is caused by mutations affecting the gene represented in CC this entry. CC -!- SIMILARITY: Belongs to the mitochondrial carrier (TC 2.A.29) CC family. SLC25A38 subfamily. CC -!- SIMILARITY: Contains 3 Solcar repeats. CC --------------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution (CC BY 4.0) License CC --------------------------------------------------------------------------- DR EMBL; AK000558; BAA91253.1; -; mRNA. DR EMBL; CR457242; CAG33523.1; -; mRNA. DR EMBL; BC013194; AAH13194.1; -; mRNA. DR IPI; IPI00304666; -. DR RefSeq; NP_060345.2; NM_017875.2. DR UniGene; Hs.369615; -. DR ProteinModelPortal; Q96DW6; -. DR SMR; Q96DW6; 31-296. DR IntAct; Q96DW6; 4. DR MINT; MINT-1367644; -. DR STRING; 9606.ENSP00000273158; -. DR TCDB; 2.A.29.5.6; the mitochondrial carrier (mc) family. DR PhosphoSite; Q96DW6; -. DR DMDM; 74751821; -. DR PaxDb; Q96DW6; -. DR PRIDE; Q96DW6; -. DR DNASU; 54977; -. DR Ensembl; ENST00000273158; ENSP00000273158; ENSG00000144659. DR GeneID; 54977; -. DR KEGG; hsa:54977; -. DR UCSC; uc003cjo.2; human. DR CTD; 54977; -. DR GeneCards; GC03P039433; -. DR HGNC; HGNC:26054; SLC25A38. DR HPA; HPA041027; -. DR MIM; 205950; phenotype. DR MIM; 610819; gene. DR neXtProt; NX_Q96DW6; -. DR Orphanet; 255132; Autosomal recessive pyridoxine-refractory sideroblastic anemia. DR PharmGKB; PA162403607; -. DR eggNOG; NOG268441; -. DR HOGENOM; HOG000006978; -. DR HOVERGEN; HBG054682; -. DR InParanoid; Q96DW6; -. DR KO; K15118; -. DR OMA; RWIGQAV; -. DR OrthoDB; EOG4GB76W; -. DR PhylomeDB; Q96DW6; -. DR ChiTaRS; SLC25A38; human. DR GenomeRNAi; 54977; -. DR NextBio; 58234; -. DR ArrayExpress; Q96DW6; -. DR Bgee; Q96DW6; -. DR CleanEx; HS_SLC25A38; -. DR Genevestigator; Q96DW6; -. DR GO; GO:0016021; C:integral to membrane; IEA:UniProtKB-KW. DR GO; GO:0005743; C:mitochondrial inner membrane; IEA:UniProtKB-SubCell. DR GO; GO:0030218; P:erythrocyte differentiation; IMP:UniProtKB. DR GO; GO:0006783; P:heme biosynthetic process; TAS:UniProtKB. DR GO; GO:0006810; P:transport; IEA:UniProtKB-KW. DR Gene3D; 1.50.40.10; -; 1. DR InterPro; IPR018108; Mitochondrial_sb/sol_carrier. DR InterPro; IPR023395; Mt_carrier_dom. DR Pfam; PF00153; Mito_carr; 3. DR SUPFAM; SSF103506; Mitoch_carrier; 1. DR PROSITE; PS50920; SOLCAR; 3. PE 1: Evidence at protein level; KW Complete proteome; Disease mutation; Membrane; Mitochondrion; KW Mitochondrion inner membrane; Polymorphism; Reference proteome; KW Repeat; Transmembrane; Transmembrane helix; Transport. FT CHAIN 1 304 Solute carrier family 25 member 38. FT /FTId=PRO_0000291802. FT TRANSMEM 31 51 Helical; Name=1; (Potential). FT TRANSMEM 89 109 Helical; Name=2; (Potential). FT TRANSMEM 127 147 Helical; Name=3; (Potential). FT TRANSMEM 176 198 Helical; Name=4; (Potential). FT TRANSMEM 214 234 Helical; Name=5; (Potential). FT TRANSMEM 282 302 Helical; Name=6; (Potential). FT REPEAT 25 114 Solcar 1. FT REPEAT 121 205 Solcar 2. FT REPEAT 215 299 Solcar 3. FT VARIANT 66 66 R -> G (in dbSNP:rs34127778). FT /FTId=VAR_032862. FT VARIANT 130 130 G -> E (in PRARSA). FT /FTId=VAR_058093. FT VARIANT 134 134 R -> H (in PRARSA). FT /FTId=VAR_058094. FT VARIANT 187 187 R -> P (in PRARSA). FT /FTId=VAR_058095. FT VARIANT 209 209 D -> H (in PRARSA). FT /FTId=VAR_058096. FT CONFLICT 239 239 D -> G (in Ref. 1; BAA91253). SQ SEQUENCE 304 AA; 33566 MW; 026B8121C40F8FF0 CRC64; MIQNSRPSLL QPQDVGDTVE TLMLHPVIKA FLCGSISGTC STLLFQPLDL LKTRLQTLQP SDHGSRRVGM LAVLLKVVRT ESLLGLWKGM SPSIVRCVPG VGIYFGTLYS LKQYFLRGHP PTALESVMLG VGSRSVAGVC MSPITVIKTR YESGKYGYES IYAALRSIYH SEGHRGLFSG LTATLLRDAP FSGIYLMFYN QTKNIVPHDQ VDATLIPITN FSCGIFAGIL ASLVTQPADV IKTHMQLYPL KFQWIGQAVT LIFKDYGLRG FFQGGIPRAL RRTLMAAMAW TVYEEMMAKM GLKS //