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Protein

Putative transferase CAF17, mitochondrial

Gene

IBA57

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

Functioni

Involved in the maturation of mitochondrial 4Fe-4S proteins functioning late in the iron-sulfur cluster assembly pathway.1 Publication

GO - Molecular functioni

  • poly(A) RNA binding Source: UniProtKB
  • transferase activity Source: UniProtKB-KW

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Transferase

Keywords - Biological processi

Heme biosynthesis

Names & Taxonomyi

Protein namesi
Recommended name:
Putative transferase CAF17, mitochondrial (EC:2.1.-.-)
Alternative name(s):
Iron-sulfur cluster assembly factor homolog
Gene namesi
Name:IBA57
Synonyms:C1orf69
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

HGNCiHGNC:27302. IBA57.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Mitochondrion

Pathology & Biotechi

Involvement in diseasei

Multiple mitochondrial dysfunctions syndrome 3 (MMDS3)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA severe disorder of systemic energy metabolism, resulting in weakness, respiratory failure, lack of neurologic development, lactic acidosis, hyperglycinemia and early death. Some patients show failure to thrive, pulmonary hypertension, hypotonia and irritability. Biochemical features include severe combined deficiency of the 2-oxoacid dehydrogenases, defective lipoic acid synthesis and reduction in activity of mitochondrial respiratory chain complexes.
See also OMIM:615330
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti314 – 3141Q → P in MMDS3; loss of stability and consequently decrease in various mitochondrial 4Fe-4S proteins and in proteins covalently linked to lipoic acid. 1 Publication
Corresponds to variant rs587777016 [ dbSNP | Ensembl ].
VAR_069821
Spastic paraplegia 74, autosomal recessive (SPG74)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG74 is characterized by a combination of spastic paraplegia, optic atrophy, and peripheral neuropathy with childhood-onset and slow progression into late adulthood.
See also OMIM:616451

Keywords - Diseasei

Disease mutation, Hereditary spastic paraplegia, Neurodegeneration

Organism-specific databases

MalaCardsiIBA57.
MIMi615330. phenotype.
616451. phenotype.
Orphaneti363424. Hypotonia-cerebral atrophy-hyperglycinemia syndrome.
PharmGKBiPA142672519.

Polymorphism and mutation databases

BioMutaiIBA57.
DMDMi74744873.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transit peptidei1 – 3939MitochondrionSequence analysisAdd
BLAST
Chaini40 – 356317Putative transferase CAF17, mitochondrialPRO_0000278633Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei309 – 3091N6-acetyllysine; alternateBy similarity
Modified residuei309 – 3091N6-succinyllysine; alternateBy similarity

Keywords - PTMi

Acetylation

Proteomic databases

EPDiQ5T440.
MaxQBiQ5T440.
PaxDbiQ5T440.
PeptideAtlasiQ5T440.
PRIDEiQ5T440.

PTM databases

iPTMnetiQ5T440.
PhosphoSiteiQ5T440.

Expressioni

Tissue specificityi

Expressed in skin fibroblasts and skeletal muscle (at protein level).1 Publication

Gene expression databases

BgeeiQ5T440.
CleanExiHS_C1orf69.
GenevisibleiQ5T440. HS.

Organism-specific databases

HPAiHPA030557.

Interactioni

Protein-protein interaction databases

BioGridi128310. 16 interactions.
IntActiQ5T440. 2 interactions.
STRINGi9606.ENSP00000355672.

Structurei

3D structure databases

ProteinModelPortaliQ5T440.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the GcvT family. CAF17 subfamily.Curated

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiKOG2929. Eukaryota.
COG0354. LUCA.
GeneTreeiENSGT00390000006465.
HOVERGENiHBG080951.
InParanoidiQ5T440.
OMAiDYHQHRY.
OrthoDBiEOG72JWGJ.
PhylomeDBiQ5T440.
TreeFamiTF105983.

Family and domain databases

InterProiIPR013977. GCV_T_C.
IPR017703. YgfZ/GcvT_CS.
[Graphical view]
PfamiPF08669. GCV_T_C. 1 hit.
[Graphical view]
TIGRFAMsiTIGR03317. ygfZ_signature. 1 hit.

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

Q5T440-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MATAALLRGA TPGRGGPVWR WRLRAAPRCR LAHSSCSPGG DPTAGAAWAC
60 70 80 90 100
FRLDGRTLLR VRGPDAAPFL LGLLTNELPL PSPAAAGAPP AARAGYAHFL
110 120 130 140 150
NVQGRTLYDV ILYGLQEHSE VSGFLLECDS SVQGALQKHL ALYRIRRKVT
160 170 180 190 200
VEPHPELRVW AVLPSSPEAC GAASLQERAG AAAILIRDPR TARMGWRLLT
210 220 230 240 250
QDEGPALVPG GRLGDLWDYH QHRYLQGVPE GVRDLPPGVA LPLESNLAFM
260 270 280 290 300
NGVSFTKGCY IGQELTARTH HMGVIRKRLF PVRFLDPLPT SGITPGATVL
310 320 330 340 350
TASGQTVGKF RAGQGNVGLA LLWSEKIKGP LHIRASEGAQ VALAASVPDW

WPTVSK
Length:356
Mass (Da):38,155
Last modified:December 21, 2004 - v1
Checksum:i199A04DAB6840807
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti211 – 2111G → S.
Corresponds to variant rs2298014 [ dbSNP | Ensembl ].
VAR_030794
Natural varianti314 – 3141Q → P in MMDS3; loss of stability and consequently decrease in various mitochondrial 4Fe-4S proteins and in proteins covalently linked to lipoic acid. 1 Publication
Corresponds to variant rs587777016 [ dbSNP | Ensembl ].
VAR_069821

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL359510 Genomic DNA. No translation available.
CCDSiCCDS31046.1.
RefSeqiNP_001010867.1. NM_001010867.3.
UniGeneiHs.237017.
Hs.636881.

Genome annotation databases

EnsembliENST00000366711; ENSP00000355672; ENSG00000181873.
GeneIDi200205.
KEGGihsa:200205.
UCSCiuc001hsl.5. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL359510 Genomic DNA. No translation available.
CCDSiCCDS31046.1.
RefSeqiNP_001010867.1. NM_001010867.3.
UniGeneiHs.237017.
Hs.636881.

3D structure databases

ProteinModelPortaliQ5T440.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi128310. 16 interactions.
IntActiQ5T440. 2 interactions.
STRINGi9606.ENSP00000355672.

PTM databases

iPTMnetiQ5T440.
PhosphoSiteiQ5T440.

Polymorphism and mutation databases

BioMutaiIBA57.
DMDMi74744873.

Proteomic databases

EPDiQ5T440.
MaxQBiQ5T440.
PaxDbiQ5T440.
PeptideAtlasiQ5T440.
PRIDEiQ5T440.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000366711; ENSP00000355672; ENSG00000181873.
GeneIDi200205.
KEGGihsa:200205.
UCSCiuc001hsl.5. human.

Organism-specific databases

CTDi200205.
GeneCardsiIBA57.
HGNCiHGNC:27302. IBA57.
HPAiHPA030557.
MalaCardsiIBA57.
MIMi615316. gene.
615330. phenotype.
616451. phenotype.
neXtProtiNX_Q5T440.
Orphaneti363424. Hypotonia-cerebral atrophy-hyperglycinemia syndrome.
PharmGKBiPA142672519.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2929. Eukaryota.
COG0354. LUCA.
GeneTreeiENSGT00390000006465.
HOVERGENiHBG080951.
InParanoidiQ5T440.
OMAiDYHQHRY.
OrthoDBiEOG72JWGJ.
PhylomeDBiQ5T440.
TreeFamiTF105983.

Miscellaneous databases

ChiTaRSiIBA57. human.
GenomeRNAii200205.
PROiQ5T440.
SOURCEiSearch...

Gene expression databases

BgeeiQ5T440.
CleanExiHS_C1orf69.
GenevisibleiQ5T440. HS.

Family and domain databases

InterProiIPR013977. GCV_T_C.
IPR017703. YgfZ/GcvT_CS.
[Graphical view]
PfamiPF08669. GCV_T_C. 1 hit.
[Graphical view]
TIGRFAMsiTIGR03317. ygfZ_signature. 1 hit.
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "The DNA sequence and biological annotation of human chromosome 1."
    Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.
    , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
    Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  2. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  3. "The human mitochondrial ISCA1, ISCA2, and IBA57 proteins are required for [4Fe-4S] protein maturation."
    Sheftel A.D., Wilbrecht C., Stehling O., Niggemeyer B., Elsasser H.P., Muhlenhoff U., Lill R.
    Mol. Biol. Cell 23:1157-1166(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: SUBCELLULAR LOCATION.
  4. "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."
    Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D., Wang L., Ye M., Zou H.
    J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Liver.
  5. Cited for: INVOLVEMENT IN SPG74.
  6. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  7. Cited for: VARIANT MMDS3 PRO-314, FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.

Entry informationi

Entry nameiCAF17_HUMAN
AccessioniPrimary (citable) accession number: Q5T440
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 20, 2007
Last sequence update: December 21, 2004
Last modified: July 6, 2016
This is version 94 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 1
    Human chromosome 1: 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

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 one 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.