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Q9H019 (MFR1L_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 83. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Mitochondrial fission regulator 1-like
Gene names
Name:MTFR1L
Synonyms:FAM54B
ORF Names:HYST1888, MSTP116
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length292 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Sequence similarities

Belongs to the MTFR1 family.

Sequence caution

The sequence AAQ13638.1 differs from that shown. Reason: Frameshift at positions 7 and 49.

Ontologies

Keywords
   Coding sequence diversityAlternative splicing
Polymorphism
   PTMPhosphoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
None. [Check GOA]

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9H019-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
Isoform 2 (identifier: Q9H019-2)

The sequence of this isoform differs from the canonical sequence as follows:
     151-292: ASASLTPDFL...KEEDISRKGN → VTSPRRQRWR...LCPRPAALQT
Isoform 3 (identifier: Q9H019-3)

The sequence of this isoform differs from the canonical sequence as follows:
     151-162: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 292292Mitochondrial fission regulator 1-like
PRO_0000341566

Amino acid modifications

Modified residue1031Phosphoserine By similarity
Modified residue2381Phosphoserine Ref.11 Ref.12
Modified residue2611Phosphoserine Ref.10
Modified residue2731Phosphoserine Ref.11

Natural variations

Alternative sequence151 – 292142ASASL…SRKGN → VTSPRRQRWRSLSFHQSPCF VLPALNVANQNTKLPAVRLK RMTASLCPRPAALQT in isoform 2.
VSP_034338
Alternative sequence151 – 16212Missing in isoform 3.
VSP_034339
Natural variant581P → S.
Corresponds to variant rs35448678 [ dbSNP | Ensembl ].
VAR_044084

Experimental info

Sequence conflict871R → W in CAC21683. Ref.4
Sequence conflict1361S → G in CAC21683. Ref.4
Sequence conflict2731S → T in CAC21683. Ref.4

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified June 10, 2008. Version 2.
Checksum: 39B23825CA1638EF

FASTA29231,957
        10         20         30         40         50         60 
MSGMEATVTI PIWQNKPHGA ARSVVRRIGT NLPLKPCARA SFETLPNISD LCLRDVPPVP 

        70         80         90        100        110        120 
TLADIAWIAA DEEETYARVR SDTRPLRHTW KPSPLIVMQR NASVPNLRGS EERLLALKKP 

       130        140        150        160        170        180 
ALPALSRTTE LQDELSHLRS QIAKIVAADA ASASLTPDFL SPGSSNVSSP LPCFGSSFHS 

       190        200        210        220        230        240 
TTSFVISDIT EETEVEVPEL PSVPLLCSAS PECCKPEHKA ACSSSEEDDC VSLSKASSFA 

       250        260        270        280        290 
DMMGILKDFH RMKQSQDLNR SLLKEEDPAV LISEVLRRKF ALKEEDISRK GN 

« Hide

Isoform 2 [UniParc].

Checksum: 307148C880E5ED61
Show »

FASTA20522,772
Isoform 3 [UniParc].

Checksum: 77632C8F0CB0A11F
Show »

FASTA28030,770

References

[1]"Homo sapiens normal heart mRNA MST116."
Wang X.Y., Gong Q., Qin B.M., Sheng H., Liu Y.Q., Zhao B., Liu B., Zhang Q., Zheng W.Y., Xu H.S., Liu B.H., Hui R.T.
Submitted (AUG-1999) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
Tissue: Heart.
[2]"Expression profiling and differential screening between hepatoblastomas and the corresponding normal livers: identification of high expression of the PLK1 oncogene as a poor-prognostic indicator of hepatoblastomas."
Yamada S., Ohira M., Horie H., Ando K., Takayasu H., Suzuki Y., Sugano S., Hirata T., Goto T., Matsunaga T., Hiyama E., Hayashi Y., Ando H., Suita S., Kaneko M., Sasaki F., Hashizume K., Ohnuma N., Nakagawara A.
Oncogene 23:5901-5911(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Liver.
[3]"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] (ISOFORM 2).
[4]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
Tissue: Brain and Cervix.
[5]"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. expand/collapse author list , 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].
[6]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[7]"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: Brain.
[8]"A quantitative atlas of mitotic phosphorylation."
Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P.
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[9]"Large-scale proteomics analysis of the human kinome."
Oppermann F.S., Gnad F., Olsen J.V., Hornberger R., Greff Z., Keri G., Mann M., Daub H.
Mol. Cell. Proteomics 8:1751-1764(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[10]"Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-261, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Leukemic T-cell.
[11]"Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-238 AND SER-273, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[12]"System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-238, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF173891 mRNA. Translation: AAQ13638.1. Frameshift.
AB075880 mRNA. Translation: BAD38662.1.
AK290744 mRNA. Translation: BAF83433.1.
AL512766 mRNA. Translation: CAC21683.1.
BX647921 mRNA. Translation: CAH56194.1.
AL020996 Genomic DNA. No translation available.
CH471059 Genomic DNA. Translation: EAX07865.1.
CH471059 Genomic DNA. Translation: EAX07866.1.
CH471059 Genomic DNA. Translation: EAX07868.1.
BC017175 mRNA. Translation: AAH17175.1.
CCDSCCDS41284.1. [Q9H019-1]
CCDS44089.1. [Q9H019-2]
RefSeqNP_001093095.1. NM_001099625.1. [Q9H019-1]
NP_001093096.1. NM_001099626.1. [Q9H019-1]
NP_001093097.1. NM_001099627.1. [Q9H019-2]
NP_062457.3. NM_019557.5. [Q9H019-1]
UniGeneHs.149305.

3D structure databases

ProteinModelPortalQ9H019.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid121106. 1 interaction.
IntActQ9H019. 1 interaction.
MINTMINT-4716779.
STRING9606.ENSP00000363418.

PTM databases

PhosphoSiteQ9H019.

Polymorphism databases

DMDM190359323.

Proteomic databases

MaxQBQ9H019.
PaxDbQ9H019.
PRIDEQ9H019.

Protocols and materials databases

DNASU56181.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000374300; ENSP00000363418; ENSG00000117640. [Q9H019-1]
ENST00000374301; ENSP00000363419; ENSG00000117640. [Q9H019-1]
ENST00000374303; ENSP00000363421; ENSG00000117640. [Q9H019-1]
ENST00000374307; ENSP00000363426; ENSG00000117640. [Q9H019-3]
ENST00000466284; ENSP00000434751; ENSG00000117640. [Q9H019-2]
ENST00000474295; ENSP00000435461; ENSG00000117640. [Q9H019-2]
GeneID56181.
KEGGhsa:56181.
UCSCuc001bkq.4. human. [Q9H019-1]
uc001bkr.4. human. [Q9H019-2]
uc009vrz.3. human. [Q9H019-3]

Organism-specific databases

CTD56181.
GeneCardsGC01P026147.
H-InvDBHIX0000278.
HGNCHGNC:28836. MTFR1L.
HPAHPA027124.
HPA027130.
neXtProtNX_Q9H019.
PharmGKBPA142671888.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG41842.
HOVERGENHBG103166.
OMAKPEHKAT.
PhylomeDBQ9H019.
TreeFamTF331404.

Gene expression databases

ArrayExpressQ9H019.
BgeeQ9H019.
CleanExHS_FAM54B.
GenevestigatorQ9H019.

Family and domain databases

InterProIPR007972. Mtfr1.
[Graphical view]
PANTHERPTHR14215. PTHR14215. 1 hit.
PfamPF05308. Mito_fiss_reg. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSFAM54B. human.
GeneWikiFAM54B.
GenomeRNAi56181.
NextBio61830.
PROQ9H019.

Entry information

Entry nameMFR1L_HUMAN
AccessionPrimary (citable) accession number: Q9H019
Secondary accession number(s): A6NCB4 expand/collapse secondary AC list , B7WNV5, D3DPJ4, Q63HP1, Q7Z2S7, Q9NUI7
Entry history
Integrated into UniProtKB/Swiss-Prot: June 10, 2008
Last sequence update: June 10, 2008
Last modified: July 9, 2014
This is version 83 of the entry and version 2 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

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 1

Human chromosome 1: entries, gene names and cross-references to MIM