Q9H019 (MFR1L_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Mitochondrial fission regulator 1-like

Gene names

Name:	MTFR1L
Synonyms:	FAM54B
ORF Names:	HYST1888, MSTP116

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	292 AA.
Sequence status	Complete.
Protein existence	Evidence 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 diversity	Alternative splicing Polymorphism
PTM	Phosphoprotein
Technical term	Complete 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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 292	292	Mitochondrial fission regulator 1-like		PRO_0000341566
Amino acid modifications
	Modified residue	103	1	Phosphoserine By similarity
	Modified residue	238	1	Phosphoserine Ref.11 Ref.12
	Modified residue	261	1	Phosphoserine Ref.10
	Modified residue	273	1	Phosphoserine Ref.11
Natural variations
	Alternative sequence	151 – 292	142	ASASL…SRKGN → VTSPRRQRWRSLSFHQSPCF VLPALNVANQNTKLPAVRLK RMTASLCPRPAALQT in isoform 2.		VSP_034338
	Alternative sequence	151 – 162	12	Missing in isoform 3.		VSP_034339
	Natural variant	58	1	P → S. Corresponds to variant rs35448678 [ dbSNP | Ensembl ].		VAR_044084
Experimental info
	Sequence conflict	87	1	R → W in CAC21683. Ref.4
	Sequence conflict	136	1	S → G in CAC21683. Ref.4
	Sequence conflict	273	1	S → T in CAC21683. Ref.4

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified June 10, 2008. Version 2. Checksum: 39B23825CA1638EF	FASTA	292	31,957
	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
	Isoform 2 [UniParc]. Checksum: 307148C880E5ED61	FASTA	205	22,772
	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 VTSPRRQRWR SLSFHQSPCF VLPALNVANQ 190 200 NTKLPAVRLK RMTASLCPRP AALQT
	Isoform 3 [UniParc]. Checksum: 77632C8F0CB0A11F	FASTA	280	30,770
	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 GSSNVSSPLP CFGSSFHSTT SFVISDITEE 190 200 210 220 230 240 TEVEVPELPS VPLLCSASPE CCKPEHKAAC SSSEEDDCVS LSKASSFADM MGILKDFHRM 250 260 270 280 KQSQDLNRSL LKEEDPAVLI SEVLRRKFAL KEEDISRKGN

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. , 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. , 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. , 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, MASS SPECTROMETRY. 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, MASS SPECTROMETRY. 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, MASS SPECTROMETRY.

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.
IPI	IPI00071826. IPI00470480. IPI00645882.
RefSeq	NP_001093095.1. NM_001099625.1. NP_001093096.1. NM_001099626.1. NP_001093097.1. NM_001099627.1. NP_062457.3. NM_019557.5.
UniGene	Hs.149305.
3D structure databases
ProteinModelPortal	Q9H019.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9H019. 1 interaction.
STRING	9606.ENSP00000363418.
PTM databases
PhosphoSite	Q9H019.
Polymorphism databases
DMDM	190359323.
Proteomic databases
PaxDb	Q9H019.
PRIDE	Q9H019.
Protocols and materials databases
DNASU	56181.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000374300; ENSP00000363418; ENSG00000117640. ENST00000374301; ENSP00000363419; ENSG00000117640. ENST00000374303; ENSP00000363421; ENSG00000117640. ENST00000374307; ENSP00000363426; ENSG00000117640. ENST00000466284; ENSP00000434751; ENSG00000117640. ENST00000474295; ENSP00000435461; ENSG00000117640.
GeneID	56181.
KEGG	hsa:56181.
UCSC	uc001bkq.4. human. uc001bkr.4. human. uc009vrz.3. human.
Organism-specific databases
CTD	56181.
GeneCards	GC01P026145.
H-InvDB	HIX0000278.
HGNC	HGNC:28836. MTFR1L.
HPA	HPA027124. HPA027130.
neXtProt	NX_Q9H019.
PharmGKB	PA142671888.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG41842.
HOVERGEN	HBG103166.
OMA	KPEHKAT.
OrthoDB	EOG4KPTBJ.
Gene expression databases
ArrayExpress	Q9H019.
Bgee	Q9H019.
CleanEx	HS_FAM54B.
Genevestigator	Q9H019.
Family and domain databases
InterPro	IPR007972. Mtfr1. [Graphical view]
PANTHER	PTHR14215. PTHR14215. 1 hit.
Pfam	PF05308. Mito_fiss_reg. 1 hit. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	FAM54B. human.
GenomeRNAi	56181.
NextBio	61830.

Entry information

Entry name

MFR1L_HUMAN

Accession

Primary (citable) accession number: Q9H019
Secondary accession number(s): A6NCB4 , B7WNV5, D3DPJ4, Q63HP1, Q7Z2S7, Q9NUI7

Entry history

Integrated into UniProtKB/Swiss-Prot:	June 10, 2008
Last sequence update:	June 10, 2008
Last modified:	April 3, 2013
This is version 73 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.