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Q96DW6

- S2538_HUMAN

UniProt

Q96DW6 - S2538_HUMAN

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Protein
Solute carrier family 25 member 38
Gene
SLC25A38
Organism
Homo sapiens (Human)
Status
Reviewed - 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.1 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 38
Gene namesi
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 3

Organism-specific databases

HGNCiHGNC:26054. SLC25A38.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei31 – 5626Helical; Name=1; Reviewed prediction
Add
BLAST
Transmembranei89 – 11527Helical; Name=2; Reviewed prediction
Add
BLAST
Transmembranei127 – 15226Helical; Name=3; Reviewed prediction
Add
BLAST
Transmembranei180 – 20324Helical; Name=4; Reviewed prediction
Add
BLAST
Transmembranei219 – 24527Helical; Name=5; Reviewed prediction
Add
BLAST
Transmembranei274 – 29219Helical; Name=6; Reviewed prediction
Add
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) [MIM:205950]: A 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.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
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 38UniRule annotation
PRO_0000291802Add
BLAST

Proteomic databases

MaxQBiQ96DW6.
PaxDbiQ96DW6.
PRIDEiQ96DW6.

PTM databases

PhosphoSiteiQ96DW6.

Expressioni

Tissue specificityi

Preferentially expressed in erythroid cells.1 Publication

Gene expression databases

ArrayExpressiQ96DW6.
BgeeiQ96DW6.
CleanExiHS_SLC25A38.
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.

Family & Domainsi

Domains and Repeats

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

Sequence similaritiesi

Contains 3 Solcar repeats.

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG268441.
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

MIQNSRPSLL QPQDVGDTVE TLMLHPVIKA FLCGSISGTC STLLFQPLDL    50
LKTRLQTLQP SDHGSRRVGM LAVLLKVVRT ESLLGLWKGM SPSIVRCVPG 100
VGIYFGTLYS LKQYFLRGHP PTALESVMLG VGSRSVAGVC MSPITVIKTR 150
YESGKYGYES IYAALRSIYH SEGHRGLFSG LTATLLRDAP FSGIYLMFYN 200
QTKNIVPHDQ VDATLIPITN FSCGIFAGIL ASLVTQPADV IKTHMQLYPL 250
KFQWIGQAVT LIFKDYGLRG FFQGGIPRAL RRTLMAAMAW TVYEEMMAKM 300
GLKS 304
Length:304
Mass (Da):33,566
Last modified:December 1, 2001 - v1
Checksum:i026B8121C40F8FF0
GO

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 conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti239 – 2391D → G in BAA91253. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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:
EMBL
GenBank
DDBJ
Links Updated
AK000558 mRNA. Translation: BAA91253.1 .
CR457242 mRNA. Translation: CAG33523.1 .
BC013194 mRNA. Translation: AAH13194.1 .
CCDSi CCDS2685.1.
RefSeqi NP_060345.2. NM_017875.2.
UniGenei Hs.369615.

3D structure databases

ProteinModelPortali Q96DW6.
SMRi Q96DW6. Positions 31-296.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 120313. 2 interactions.
IntActi Q96DW6. 4 interactions.
MINTi MINT-1367644.
STRINGi 9606.ENSP00000273158.

Protein family/group databases

TCDBi 2.A.29.5.6. the mitochondrial carrier (mc) family.

PTM databases

PhosphoSitei Q96DW6.

Polymorphism databases

DMDMi 74751821.

Proteomic databases

MaxQBi Q96DW6.
PaxDbi Q96DW6.
PRIDEi Q96DW6.

Protocols and materials databases

DNASUi 54977.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000273158 ; ENSP00000273158 ; ENSG00000144659 .
GeneIDi 54977.
KEGGi hsa:54977.
UCSCi uc003cjo.2. human.

Organism-specific databases

CTDi 54977.
GeneCardsi GC03P039433.
HGNCi HGNC:26054. SLC25A38.
HPAi HPA041027.
MIMi 205950. phenotype.
610819. gene.
neXtProti NX_Q96DW6.
Orphaneti 260305. Autosomal recessive sideroblastic anemia.
PharmGKBi PA162403607.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG268441.
HOGENOMi HOG000006978.
HOVERGENi HBG054682.
InParanoidi Q96DW6.
KOi K15118.
OMAi RWIGQAV.
OrthoDBi EOG7BGHMD.
PhylomeDBi Q96DW6.
TreeFami TF332793.

Miscellaneous databases

ChiTaRSi SLC25A38. human.
GenomeRNAii 54977.
NextBioi 58234.
PROi Q96DW6.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q96DW6.
Bgeei Q96DW6.
CleanExi HS_SLC25A38.
Genevestigatori Q96DW6.

Family and domain databases

Gene3Di 1.50.40.10. 1 hit.
HAMAPi MF_03064. SLC25A38.
InterProi IPR018108. Mitochondrial_sb/sol_carrier.
IPR023395. Mt_carrier_dom.
[Graphical view ]
Pfami PF00153. Mito_carr. 3 hits.
[Graphical view ]
SUPFAMi SSF103506. SSF103506. 1 hit.
PROSITEi PS50920. SOLCAR. 3 hits.
[Graphical view ]
ProtoNeti Search...

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(2004) [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 (JUN-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(2004) [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(2006) [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: July 9, 2014
This is version 103 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

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