Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Solute carrier family 25 member 38

Gene

SLC25A38

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at protein leveli

Functioni

Mitochondrial carrier required during erythropoiesis. Probably involved in the biosynthesis of heme, possibly by facilitating 5-aminolevulinate (ALA) production. May act by importing glycine into mitochondria or by exchanging glycine for ALA across the mitochondrial inner membrane.UniRule annotation1 Publication

GO - Biological processi

  1. erythrocyte differentiation Source: UniProtKB
  2. heme biosynthetic process Source: UniProtKB
  3. transport Source: UniProtKB-KW
Complete GO annotation...

Keywords - Biological processi

Transport

Protein family/group databases

TCDBi2.A.29.5.6. the mitochondrial carrier (mc) family.

Names & Taxonomyi

Protein namesi
Recommended name:
Solute carrier family 25 member 38UniRule annotation
Gene namesi
Name:SLC25A38UniRule annotation
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640 Componenti: Chromosome 3

Organism-specific databases

HGNCiHGNC:26054. SLC25A38.

Subcellular locationi

Mitochondrion inner membrane UniRule annotation; Multi-pass membrane protein UniRule annotation

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei31 – 5626Helical; Name=1UniRule annotationAdd
BLAST
Transmembranei89 – 11527Helical; Name=2UniRule annotationAdd
BLAST
Transmembranei127 – 15226Helical; Name=3UniRule annotationAdd
BLAST
Transmembranei180 – 20324Helical; Name=4UniRule annotationAdd
BLAST
Transmembranei219 – 24527Helical; Name=5UniRule annotationAdd
BLAST
Transmembranei274 – 29219Helical; Name=6UniRule annotationAdd
BLAST

GO - Cellular componenti

  1. integral component of membrane Source: UniProtKB-KW
  2. mitochondrial inner membrane Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

Membrane, Mitochondrion, Mitochondrion inner membrane

Pathology & Biotechi

Involvement in diseasei

Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive (PRARSA)1 Publication

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA form of sideroblastic anemia not responsive to pyridoxine. Sideroblastic anemia is characterized by anemia of varying severity, hypochromic peripheral erythrocytes, systemic iron overload secondary to chronic ineffective erythropoiesis, and the presence of bone marrow ringed sideroblasts. Sideroblasts are characterized by iron-loaded mitochondria clustered around the nucleus.

See also OMIM:205950
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti130 – 1301G → E in PRARSA. 1 Publication
VAR_058093
Natural varianti134 – 1341R → H in PRARSA. 1 Publication
VAR_058094
Natural varianti187 – 1871R → P in PRARSA. 1 Publication
VAR_058095
Natural varianti209 – 2091D → H in PRARSA. 1 Publication
VAR_058096

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi205950. phenotype.
Orphaneti260305. Autosomal recessive sideroblastic anemia.
PharmGKBiPA162403607.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 304304Solute carrier family 25 member 38PRO_0000291802Add
BLAST

Proteomic databases

MaxQBiQ96DW6.
PaxDbiQ96DW6.
PRIDEiQ96DW6.

PTM databases

PhosphoSiteiQ96DW6.

Expressioni

Tissue specificityi

Preferentially expressed in erythroid cells.1 Publication

Gene expression databases

BgeeiQ96DW6.
CleanExiHS_SLC25A38.
ExpressionAtlasiQ96DW6. baseline and differential.
GenevestigatoriQ96DW6.

Organism-specific databases

HPAiHPA041027.

Interactioni

Protein-protein interaction databases

BioGridi120313. 2 interactions.
IntActiQ96DW6. 4 interactions.
MINTiMINT-1367644.
STRINGi9606.ENSP00000273158.

Structurei

3D structure databases

ProteinModelPortaliQ96DW6.
SMRiQ96DW6. Positions 31-296.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati25 – 11490Solcar 1Add
BLAST
Repeati121 – 20585Solcar 2Add
BLAST
Repeati215 – 29985Solcar 3Add
BLAST

Sequence similaritiesi

Belongs to the mitochondrial carrier (TC 2.A.29) family. SLC25A38 subfamily. [View classification]UniRule annotation
Contains 3 Solcar repeats.UniRule annotation

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG268441.
GeneTreeiENSGT00550000075117.
HOGENOMiHOG000006978.
HOVERGENiHBG054682.
InParanoidiQ96DW6.
KOiK15118.
OMAiRWIGQAV.
OrthoDBiEOG7BGHMD.
PhylomeDBiQ96DW6.
TreeFamiTF332793.

Family and domain databases

Gene3Di1.50.40.10. 1 hit.
HAMAPiMF_03064. SLC25A38.
InterProiIPR018108. Mitochondrial_sb/sol_carrier.
IPR023395. Mt_carrier_dom.
[Graphical view]
PfamiPF00153. Mito_carr. 3 hits.
[Graphical view]
SUPFAMiSSF103506. SSF103506. 1 hit.
PROSITEiPS50920. SOLCAR. 3 hits.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q96DW6-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MIQNSRPSLL QPQDVGDTVE TLMLHPVIKA FLCGSISGTC STLLFQPLDL
60 70 80 90 100
LKTRLQTLQP SDHGSRRVGM LAVLLKVVRT ESLLGLWKGM SPSIVRCVPG
110 120 130 140 150
VGIYFGTLYS LKQYFLRGHP PTALESVMLG VGSRSVAGVC MSPITVIKTR
160 170 180 190 200
YESGKYGYES IYAALRSIYH SEGHRGLFSG LTATLLRDAP FSGIYLMFYN
210 220 230 240 250
QTKNIVPHDQ VDATLIPITN FSCGIFAGIL ASLVTQPADV IKTHMQLYPL
260 270 280 290 300
KFQWIGQAVT LIFKDYGLRG FFQGGIPRAL RRTLMAAMAW TVYEEMMAKM

GLKS
Length:304
Mass (Da):33,566
Last modified:December 1, 2001 - v1
Checksum:i026B8121C40F8FF0
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti239 – 2391D → G in BAA91253 (PubMed:14702039).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti66 – 661R → G.
Corresponds to variant rs34127778 [ dbSNP | Ensembl ].
VAR_032862
Natural varianti130 – 1301G → E in PRARSA. 1 Publication
VAR_058093
Natural varianti134 – 1341R → H in PRARSA. 1 Publication
VAR_058094
Natural varianti187 – 1871R → P in PRARSA. 1 Publication
VAR_058095
Natural varianti209 – 2091D → H in PRARSA. 1 Publication
VAR_058096

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK000558 mRNA. Translation: BAA91253.1.
CR457242 mRNA. Translation: CAG33523.1.
BC013194 mRNA. Translation: AAH13194.1.
CCDSiCCDS2685.1.
RefSeqiNP_060345.2. NM_017875.2.
UniGeneiHs.369615.

Genome annotation databases

EnsembliENST00000273158; ENSP00000273158; ENSG00000144659.
GeneIDi54977.
KEGGihsa:54977.
UCSCiuc003cjo.2. human.

Polymorphism databases

DMDMi74751821.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK000558 mRNA. Translation: BAA91253.1.
CR457242 mRNA. Translation: CAG33523.1.
BC013194 mRNA. Translation: AAH13194.1.
CCDSiCCDS2685.1.
RefSeqiNP_060345.2. NM_017875.2.
UniGeneiHs.369615.

3D structure databases

ProteinModelPortaliQ96DW6.
SMRiQ96DW6. Positions 31-296.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120313. 2 interactions.
IntActiQ96DW6. 4 interactions.
MINTiMINT-1367644.
STRINGi9606.ENSP00000273158.

Protein family/group databases

TCDBi2.A.29.5.6. the mitochondrial carrier (mc) family.

PTM databases

PhosphoSiteiQ96DW6.

Polymorphism databases

DMDMi74751821.

Proteomic databases

MaxQBiQ96DW6.
PaxDbiQ96DW6.
PRIDEiQ96DW6.

Protocols and materials databases

DNASUi54977.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000273158; ENSP00000273158; ENSG00000144659.
GeneIDi54977.
KEGGihsa:54977.
UCSCiuc003cjo.2. human.

Organism-specific databases

CTDi54977.
GeneCardsiGC03P039433.
HGNCiHGNC:26054. SLC25A38.
HPAiHPA041027.
MIMi205950. phenotype.
610819. gene.
neXtProtiNX_Q96DW6.
Orphaneti260305. Autosomal recessive sideroblastic anemia.
PharmGKBiPA162403607.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG268441.
GeneTreeiENSGT00550000075117.
HOGENOMiHOG000006978.
HOVERGENiHBG054682.
InParanoidiQ96DW6.
KOiK15118.
OMAiRWIGQAV.
OrthoDBiEOG7BGHMD.
PhylomeDBiQ96DW6.
TreeFamiTF332793.

Miscellaneous databases

ChiTaRSiSLC25A38. human.
GenomeRNAii54977.
NextBioi58234.
PROiQ96DW6.
SOURCEiSearch...

Gene expression databases

BgeeiQ96DW6.
CleanExiHS_SLC25A38.
ExpressionAtlasiQ96DW6. baseline and differential.
GenevestigatoriQ96DW6.

Family and domain databases

Gene3Di1.50.40.10. 1 hit.
HAMAPiMF_03064. SLC25A38.
InterProiIPR018108. Mitochondrial_sb/sol_carrier.
IPR023395. Mt_carrier_dom.
[Graphical view]
PfamiPF00153. Mito_carr. 3 hits.
[Graphical view]
SUPFAMiSSF103506. SSF103506. 1 hit.
PROSITEiPS50920. SOLCAR. 3 hits.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Carcinoma.
  2. "Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)."
    Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.
    Submitted (MAY-2004) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Skin.
  4. "Fourteen novel human members of mitochondrial solute carrier family 25 (SLC25) widely expressed in the central nervous system."
    Haitina T., Lindblom J., Renstroem T., Fredriksson R.
    Genomics 88:779-790(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION.
  5. Cited for: VARIANTS PRARSA GLU-130; HIS-134; PRO-187 AND HIS-209, FUNCTION, TISSUE SPECIFICITY.

Entry informationi

Entry nameiS2538_HUMAN
AccessioniPrimary (citable) accession number: Q96DW6
Secondary accession number(s): Q9NWX2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: June 26, 2007
Last sequence update: December 1, 2001
Last modified: January 7, 2015
This is version 106 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.