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Q9H019

- MFR1L_HUMAN

UniProt

Q9H019 - MFR1L_HUMAN

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Protein

Mitochondrial fission regulator 1-like

Gene
MTFR1L, FAM54B, HYST1888, MSTP116
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5 - Experimental evidence at protein leveli

Names & Taxonomyi

Protein namesi
Recommended name:
Mitochondrial fission regulator 1-like
Gene namesi
Name:MTFR1L
Synonyms:FAM54B
ORF Names:HYST1888, MSTP116
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 1

Organism-specific databases

HGNCiHGNC:28836. MTFR1L.

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA142671888.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 292292Mitochondrial fission regulator 1-likePRO_0000341566Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei103 – 1031Phosphoserine By similarity
Modified residuei238 – 2381Phosphoserine2 Publications
Modified residuei261 – 2611Phosphoserine1 Publication
Modified residuei273 – 2731Phosphoserine1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiQ9H019.
PaxDbiQ9H019.
PRIDEiQ9H019.

PTM databases

PhosphoSiteiQ9H019.

Expressioni

Gene expression databases

ArrayExpressiQ9H019.
BgeeiQ9H019.
CleanExiHS_FAM54B.
GenevestigatoriQ9H019.

Organism-specific databases

HPAiHPA027124.
HPA027130.

Interactioni

Protein-protein interaction databases

BioGridi121106. 1 interaction.
IntActiQ9H019. 1 interaction.
MINTiMINT-4716779.
STRINGi9606.ENSP00000363418.

Structurei

3D structure databases

ProteinModelPortaliQ9H019.

Family & Domainsi

Sequence similaritiesi

Belongs to the MTFR1 family.

Phylogenomic databases

eggNOGiNOG41842.
HOVERGENiHBG103166.
OMAiKPEHKAT.
PhylomeDBiQ9H019.
TreeFamiTF331404.

Family and domain databases

InterProiIPR007972. Mtfr1.
[Graphical view]
PANTHERiPTHR14215. PTHR14215. 1 hit.
PfamiPF05308. Mito_fiss_reg. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q9H019-1) [UniParc]FASTAAdd to Basket

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.

« Hide

MSGMEATVTI PIWQNKPHGA ARSVVRRIGT NLPLKPCARA SFETLPNISD    50
LCLRDVPPVP TLADIAWIAA DEEETYARVR SDTRPLRHTW KPSPLIVMQR 100
NASVPNLRGS EERLLALKKP ALPALSRTTE LQDELSHLRS QIAKIVAADA 150
ASASLTPDFL SPGSSNVSSP LPCFGSSFHS TTSFVISDIT EETEVEVPEL 200
PSVPLLCSAS PECCKPEHKA ACSSSEEDDC VSLSKASSFA DMMGILKDFH 250
RMKQSQDLNR SLLKEEDPAV LISEVLRRKF ALKEEDISRK GN 292
Length:292
Mass (Da):31,957
Last modified:June 10, 2008 - v2
Checksum:i39B23825CA1638EF
GO
Isoform 2 (identifier: Q9H019-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     151-292: ASASLTPDFL...KEEDISRKGN → VTSPRRQRWR...LCPRPAALQT

Show »
Length:205
Mass (Da):22,772
Checksum:i307148C880E5ED61
GO
Isoform 3 (identifier: Q9H019-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     151-162: Missing.

Note: No experimental confirmation available.

Show »
Length:280
Mass (Da):30,770
Checksum:i77632C8F0CB0A11F
GO

Sequence cautioni

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

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti58 – 581P → S.
Corresponds to variant rs35448678 [ dbSNP | Ensembl ].
VAR_044084

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei151 – 292142ASASL…SRKGN → VTSPRRQRWRSLSFHQSPCF VLPALNVANQNTKLPAVRLK RMTASLCPRPAALQT in isoform 2. VSP_034338Add
BLAST
Alternative sequencei151 – 16212Missing in isoform 3. VSP_034339Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti87 – 871R → W in CAC21683. 1 Publication
Sequence conflicti136 – 1361S → G in CAC21683. 1 Publication
Sequence conflicti273 – 2731S → T in CAC21683. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSiCCDS41284.1. [Q9H019-1]
CCDS44089.1. [Q9H019-2]
RefSeqiNP_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]
UniGeneiHs.149305.

Genome annotation databases

EnsembliENST00000374300; 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]
GeneIDi56181.
KEGGihsa:56181.
UCSCiuc001bkq.4. human. [Q9H019-1]
uc001bkr.4. human. [Q9H019-2]
uc009vrz.3. human. [Q9H019-3]

Polymorphism databases

DMDMi190359323.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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 .
CCDSi CCDS41284.1. [Q9H019-1 ]
CCDS44089.1. [Q9H019-2 ]
RefSeqi NP_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 ]
UniGenei Hs.149305.

3D structure databases

ProteinModelPortali Q9H019.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 121106. 1 interaction.
IntActi Q9H019. 1 interaction.
MINTi MINT-4716779.
STRINGi 9606.ENSP00000363418.

PTM databases

PhosphoSitei Q9H019.

Polymorphism databases

DMDMi 190359323.

Proteomic databases

MaxQBi Q9H019.
PaxDbi Q9H019.
PRIDEi Q9H019.

Protocols and materials databases

DNASUi 56181.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000374300 ; 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 ]
GeneIDi 56181.
KEGGi hsa:56181.
UCSCi uc001bkq.4. human. [Q9H019-1 ]
uc001bkr.4. human. [Q9H019-2 ]
uc009vrz.3. human. [Q9H019-3 ]

Organism-specific databases

CTDi 56181.
GeneCardsi GC01P026147.
H-InvDB HIX0000278.
HGNCi HGNC:28836. MTFR1L.
HPAi HPA027124.
HPA027130.
neXtProti NX_Q9H019.
PharmGKBi PA142671888.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG41842.
HOVERGENi HBG103166.
OMAi KPEHKAT.
PhylomeDBi Q9H019.
TreeFami TF331404.

Miscellaneous databases

ChiTaRSi FAM54B. human.
GeneWikii FAM54B.
GenomeRNAii 56181.
NextBioi 61830.
PROi Q9H019.

Gene expression databases

ArrayExpressi Q9H019.
Bgeei Q9H019.
CleanExi HS_FAM54B.
Genevestigatori Q9H019.

Family and domain databases

InterProi IPR007972. Mtfr1.
[Graphical view ]
PANTHERi PTHR14215. PTHR14215. 1 hit.
Pfami PF05308. Mito_fiss_reg. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

  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.
    , 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. 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.
    , 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. 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. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  9. 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].

Entry informationi

Entry nameiMFR1L_HUMAN
AccessioniPrimary (citable) accession number: Q9H019
Secondary accession number(s): A6NCB4
, B7WNV5, D3DPJ4, Q63HP1, Q7Z2S7, Q9NUI7
Entry historyi
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 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. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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