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-NOV-2009, entry version 60. 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 AUTOSOMAL CONGENITAL SIDEROBLASTIC ANEMIA GLU-130; HIS-134; RP PRO-187 AND HIS-209, FUNCTION, AND 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: Defects in SLC25A38 are the cause of autosomal congenital CC sideroblastic anemia. Sideroblastic anemia is characterized by CC anemia of varying severity, hypochromic peripheral erythrocytes, CC systemic iron overload secondary to chronic ineffective CC erythropoiesis, and the presence of bone marrow ringed CC sideroblasts. Sideroblasts are characterized by iron-loaded CC mitochondria clustered around the nucleus. XLSA shows a variable CC hematologic response to pharmacologic doses of pyridoxine. CC -!- SIMILARITY: Belongs to the mitochondrial carrier family. SLC25A38 CC 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; -. DR UniGene; Hs.369615; -. DR IntAct; Q96DW6; 4. DR STRING; Q96DW6; -. DR PRIDE; Q96DW6; -. DR Ensembl; ENST00000273158; ENSP00000273158; ENSG00000144659; Homo sapiens. DR GeneID; 54977; -. DR KEGG; hsa:54977; -. DR UCSC; uc003cjo.2; human. DR CTD; 54977; -. DR GeneCards; GC03P039400; -. DR HGNC; HGNC:26054; SLC25A38. DR MIM; 610819; gene. DR Orphanet; 98362; Genetic sideroblastic anemia. DR HOGENOM; Q96DW6; -. DR HOVERGEN; Q96DW6; -. DR OMA; KTHMQLS; -. DR OrthoDB; EOG9CG2V7; -. 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-SubCell. DR GO; GO:0005743; C:mitochondrial inner membrane; IEA:UniProtKB-KW. DR GO; GO:0005488; F:binding; IEA:InterPro. DR GO; GO:0030218; P:erythrocyte differentiation; IMP:UniProtKB. DR GO; GO:0006783; P:heme biosynthetic process; TAS:UniProtKB. DR GO; GO:0055085; P:transmembrane transport; IEA:InterPro. DR InterPro; IPR001993; Mitochondria_substrate_carrier. DR InterPro; IPR018108; Mitochondrial_sb/sol_carrier. DR PANTHER; PTHR11896; Mitoch_carrier; 1. DR Pfam; PF00153; Mito_carr; 3. DR PROSITE; PS50920; SOLCAR; 3. PE 1: Evidence at protein level; KW Complete proteome; Disease mutation; Membrane; Mitochondrion; KW Mitochondrion inner membrane; Polymorphism; Repeat; Transmembrane; KW Transport. FT CHAIN 1 304 Solute carrier family 25 member 38. FT /FTId=PRO_0000291802. FT TRANSMEM 31 51 1 (Potential). FT TRANSMEM 89 109 2 (Potential). FT TRANSMEM 127 147 3 (Potential). FT TRANSMEM 176 198 4 (Potential). FT TRANSMEM 214 234 5 (Potential). FT TRANSMEM 282 302 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 autosomal congenital FT sideroblastic anemia). FT /FTId=VAR_058093. FT VARIANT 134 134 R -> H (in autosomal congenital FT sideroblastic anemia). FT /FTId=VAR_058094. FT VARIANT 187 187 R -> P (in autosomal congenital FT sideroblastic anemia). FT /FTId=VAR_058095. FT VARIANT 209 209 D -> H (in autosomal congenital FT sideroblastic anemia). 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 //