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Q96DW6 (S2538_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified March 19, 2014. Version 101. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Solute carrier family 25 member 38
Gene names
Name:SLC25A38
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length304 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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. Ref.5

Subcellular location

Mitochondrion inner membrane; Multi-pass membrane protein By similarity HAMAP-Rule MF_03064.

Tissue specificity

Preferentially expressed in erythroid cells. Ref.5

Involvement in disease

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. Ref.5

Sequence similarities

Belongs to the mitochondrial carrier (TC 2.A.29) family. SLC25A38 subfamily. [View classification]

Contains 3 Solcar repeats.

Ontologies

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 304304Solute carrier family 25 member 38 HAMAP-Rule MF_03064
PRO_0000291802

Regions

Transmembrane31 – 5626Helical; Name=1; Potential
Transmembrane89 – 11527Helical; Name=2; Potential
Transmembrane127 – 15226Helical; Name=3; Potential
Transmembrane180 – 20324Helical; Name=4; Potential
Transmembrane219 – 24527Helical; Name=5; Potential
Transmembrane274 – 29219Helical; Name=6; Potential
Repeat25 – 11490Solcar 1 HAMAP-Rule MF_03064
Repeat121 – 20585Solcar 2 HAMAP-Rule MF_03064
Repeat215 – 29985Solcar 3 HAMAP-Rule MF_03064

Natural variations

Natural variant661R → G.
Corresponds to variant rs34127778 [ dbSNP | Ensembl ].
VAR_032862
Natural variant1301G → E in PRARSA. Ref.5
VAR_058093
Natural variant1341R → H in PRARSA. Ref.5
VAR_058094
Natural variant1871R → P in PRARSA. Ref.5
VAR_058095
Natural variant2091D → H in PRARSA. Ref.5
VAR_058096

Experimental info

Sequence conflict2391D → G in BAA91253. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Q96DW6 [UniParc].

Last modified December 1, 2001. Version 1.
Checksum: 026B8121C40F8FF0

FASTA30433,566
        10         20         30         40         50         60 
MIQNSRPSLL QPQDVGDTVE TLMLHPVIKA FLCGSISGTC STLLFQPLDL LKTRLQTLQP 

        70         80         90        100        110        120 
SDHGSRRVGM LAVLLKVVRT ESLLGLWKGM SPSIVRCVPG VGIYFGTLYS LKQYFLRGHP 

       130        140        150        160        170        180 
PTALESVMLG VGSRSVAGVC MSPITVIKTR YESGKYGYES IYAALRSIYH SEGHRGLFSG 

       190        200        210        220        230        240 
LTATLLRDAP FSGIYLMFYN QTKNIVPHDQ VDATLIPITN FSCGIFAGIL ASLVTQPADV 

       250        260        270        280        290        300 
IKTHMQLYPL KFQWIGQAVT LIFKDYGLRG FFQGGIPRAL RRTLMAAMAW TVYEEMMAKM 


GLKS 

« Hide

References

« Hide 'large scale' references
[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. expand/collapse author list , 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]"Mutations in mitochondrial carrier family gene SLC25A38 cause nonsyndromic autosomal recessive congenital sideroblastic anemia."
Guernsey D.L., Jiang H., Campagna D.R., Evans S.C., Ferguson M., Kellogg M.D., Lachance M., Matsuoka M., Nightingale M., Rideout A., Saint-Amant L., Schmidt P.J., Orr A., Bottomley S.S., Fleming M.D., Ludman M., Dyack S., Fernandez C.V., Samuels M.E.
Nat. Genet. 41:651-653(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS PRARSA GLU-130; HIS-134; PRO-187 AND HIS-209, FUNCTION, TISSUE SPECIFICITY.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AK000558 mRNA. Translation: BAA91253.1.
CR457242 mRNA. Translation: CAG33523.1.
BC013194 mRNA. Translation: AAH13194.1.
RefSeqNP_060345.2. NM_017875.2.
UniGeneHs.369615.

3D structure databases

ProteinModelPortalQ96DW6.
SMRQ96DW6. Positions 31-296.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid120313. 2 interactions.
IntActQ96DW6. 4 interactions.
MINTMINT-1367644.
STRING9606.ENSP00000273158.

Protein family/group databases

TCDB2.A.29.5.6. the mitochondrial carrier (mc) family.

PTM databases

PhosphoSiteQ96DW6.

Polymorphism databases

DMDM74751821.

Proteomic databases

PaxDbQ96DW6.
PRIDEQ96DW6.

Protocols and materials databases

DNASU54977.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000273158; ENSP00000273158; ENSG00000144659.
GeneID54977.
KEGGhsa:54977.
UCSCuc003cjo.2. human.

Organism-specific databases

CTD54977.
GeneCardsGC03P039433.
HGNCHGNC:26054. SLC25A38.
HPAHPA041027.
MIM205950. phenotype.
610819. gene.
neXtProtNX_Q96DW6.
Orphanet260305. Autosomal recessive sideroblastic anemia.
PharmGKBPA162403607.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG268441.
HOGENOMHOG000006978.
HOVERGENHBG054682.
InParanoidQ96DW6.
KOK15118.
OMARWIGQAV.
OrthoDBEOG7BGHMD.
PhylomeDBQ96DW6.
TreeFamTF332793.

Gene expression databases

ArrayExpressQ96DW6.
BgeeQ96DW6.
CleanExHS_SLC25A38.
GenevestigatorQ96DW6.

Family and domain databases

Gene3D1.50.40.10. 1 hit.
HAMAPMF_03064. SLC25A38.
InterProIPR018108. Mitochondrial_sb/sol_carrier.
IPR023395. Mt_carrier_dom.
[Graphical view]
PfamPF00153. Mito_carr. 3 hits.
[Graphical view]
SUPFAMSSF103506. SSF103506. 1 hit.
PROSITEPS50920. SOLCAR. 3 hits.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSSLC25A38. human.
GenomeRNAi54977.
NextBio58234.
PROQ96DW6.
SOURCESearch...

Entry information

Entry nameS2538_HUMAN
AccessionPrimary (citable) accession number: Q96DW6
Secondary accession number(s): Q9NWX2
Entry history
Integrated into UniProtKB/Swiss-Prot: June 26, 2007
Last sequence update: December 1, 2001
Last modified: March 19, 2014
This is version 101 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 3

Human chromosome 3: entries, gene names and cross-references to MIM