Q5H8C1 (FREM1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
FRAS1-related extracellular matrix protein 1

Alternative name(s):
Protein QBRICK

Gene names

Name:	FREM1
Synonyms:	C9orf143, C9orf145, C9orf154

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	2179 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Extracellular matrix protein that plays a role in epidermal differentiation and is required for epidermal adhesion during embryonic development By similarity.
Subcellular location	Secreted › extracellular space › extracellular matrix › basement membrane By similarity. Note: Localizes at the basement membrane zone of embryonic epidermis and hair follicles By similarity.
Domain	The Calx-beta domain binds calcium with high affinity and undergo a major conformational shift upon binding By similarity.
Involvement in disease	Bifid nose, with or without anorectal and renal anomalies (BNAR) [MIM:608980]: A disease characterized by the presence of a bifid nose usually associated with renal agenesis and anorectal malformations. A bifid nose is a congenital deformity due to failure of the paired nasal processes to fuse to a single midline organ during early gestation. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.6 Manitoba oculotrichoanal syndrome (MOTA) [MIM:248450]: A rare condition defined by eyelid colobomas, cryptophthalmos, and anophthalmia/microphthalmia, an aberrant hairline, a bifid or broad nasal tip, and gastrointestinal anomalies such as omphalocele and anal stenosis. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.7 Trigonocephaly 2 (TRIGNO2) [MIM:614485]: A keel-shaped deformation of the forehead, caused by premature fusion of the metopic sutures. It results in a triangular shape of the head. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.8
Miscellaneous	Was termed QBRICK because it contains 12 repeats: 'Q' stands for queen and is taken from the queen being the 12th in a suit of playing card, and 'BRICK' stands for the repeating unit.
Sequence similarities	Belongs to the FRAS1 family. Contains 1 C-type lectin domain. Contains 1 Calx-beta domain. Contains 12 CSPG (NG2) repeats.
Sequence caution	The sequence CAH71826.2 differs from that shown. Reason: Erroneous gene model prediction.

Ontologies

Keywords
Biological process	Cell adhesion
Cellular component	Basement membrane Extracellular matrix Secreted
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Craniosynostosis Disease mutation
Domain	Repeat Signal
Ligand	Calcium Lectin Metal-binding
Molecular function	Developmental protein
PTM	Disulfide bond Glycoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	cell communication Inferred from electronic annotation. Source: InterPro cell-matrix adhesion Inferred from electronic annotation. Source: Compara craniofacial suture morphogenesis Inferred from mutant phenotype Ref.8. Source: UniProtKB
Cellular_component	basement membrane Inferred from electronic annotation. Source: UniProtKB-SubCell integral to membrane Inferred from electronic annotation. Source: InterPro
Molecular_function	carbohydrate binding Inferred from electronic annotation. Source: InterPro metal ion binding Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q5H8C1-1)

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: Q5H8C1-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-1470: Missing.
     1471-1480: SKVTVSSDRF → MLKAALPLFT

Note: No experimental confirmation available.

Isoform 3 (identifier: Q5H8C1-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-1803: Missing.

Note: No experimental confirmation available.

Isoform 4 (identifier: Q5H8C1-4)

The sequence of this isoform differs from the canonical sequence as follows:
     1-1587: Missing.
     1588-1619: TDCFTFMATDGTNQGFIVNGRVWEEPVLFTIQ → MLDESLAVRRSKKCKEMIMHWEKKEDIDIVNT
     1804-1809: MSTKMW → SSILCL
     1810-2179: Missing.

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Signal peptide	1 – 21	21	Potential
	Chain	22 – 2179	2158	FRAS1-related extracellular matrix protein 1		PRO_0000010122
Regions
	Repeat	275 – 394	120	CSPG 1
	Repeat	395 – 502	108	CSPG 2
	Repeat	503 – 621	119	CSPG 3
	Repeat	622 – 758	137	CSPG 4
	Repeat	759 – 869	111	CSPG 5
	Repeat	870 – 1005	136	CSPG 6
	Repeat	1006 – 1129	124	CSPG 7
	Repeat	1130 – 1256	127	CSPG 8
	Repeat	1257 – 1375	119	CSPG 9
	Repeat	1376 – 1487	112	CSPG 10
	Repeat	1488 – 1608	121	CSPG 11
	Repeat	1609 – 1729	121	CSPG 12
	Domain	1731 – 1830	100	Calx-beta
	Domain	2060 – 2174	115	C-type lectin
	Motif	199 – 201	3	Cell attachment site By similarity
	Motif	1907 – 1909	3	Cell attachment site Potential
Amino acid modifications
	Glycosylation	335	1	N-linked (GlcNAc...) Potential
	Glycosylation	560	1	N-linked (GlcNAc...) Potential
	Glycosylation	622	1	N-linked (GlcNAc...) Potential
	Glycosylation	1014	1	N-linked (GlcNAc...) Potential
	Glycosylation	1566	1	N-linked (GlcNAc...) Potential
	Disulfide bond	2151 ↔ 2165		By similarity
Natural variations
	Alternative sequence	1 – 1803	1803	Missing in isoform 3.		VSP_015025
	Alternative sequence	1 – 1587	1587	Missing in isoform 4.		VSP_015026
	Alternative sequence	1 – 1470	1470	Missing in isoform 2.		VSP_015027
	Alternative sequence	1471 – 1480	10	SKVTVSSDRF → MLKAALPLFT in isoform 2.		VSP_015028
	Alternative sequence	1588 – 1619	32	TDCFT…LFTIQ → MLDESLAVRRSKKCKEMIMH WEKKEDIDIVNT in isoform 4.		VSP_015029
	Alternative sequence	1804 – 1809	6	MSTKMW → SSILCL in isoform 4.		VSP_015030
	Alternative sequence	1810 – 2179	370	Missing in isoform 4.		VSP_015031
	Natural variant	439	1	V → L. Ref.1 Corresponds to variant rs2779500 [ dbSNP | Ensembl ].		VAR_047317
	Natural variant	498	1	R → Q in TRIGNO2. Ref.8		VAR_067916
	Natural variant	499	1	I → V. Corresponds to variant rs1353223 [ dbSNP | Ensembl ].		VAR_047318
	Natural variant	649	1	R → W in BNAR. Ref.6		VAR_063422
	Natural variant	803	1	S → Y. Corresponds to variant rs7023244 [ dbSNP | Ensembl ].		VAR_047319
	Natural variant	863	1	L → V. Ref.1 Corresponds to variant rs7041710 [ dbSNP | Ensembl ].		VAR_047320
	Natural variant	1202	1	S → R. Corresponds to variant rs16932300 [ dbSNP | Ensembl ].		VAR_047321
	Natural variant	1273	1	D → E. Corresponds to variant rs7025814 [ dbSNP | Ensembl ].		VAR_047322
	Natural variant	1324	1	L → R in MOTA. Ref.7		VAR_066412
	Natural variant	1440	1	G → S in BNAR. Ref.6		VAR_063423
	Natural variant	1500	1	E → V in TRIGNO2. Ref.8		VAR_067917
	Natural variant	1502	1	V → M. Corresponds to variant rs10961700 [ dbSNP | Ensembl ].		VAR_047323
	Natural variant	1576	1	N → I. Corresponds to variant rs2101770 [ dbSNP | Ensembl ].		VAR_047324
	Natural variant	2091	1	V → I in MOTA. Ref.7		VAR_066413
	Natural variant	2143	1	Q → P. Ref.1 Ref.5 Corresponds to variant rs10961689 [ dbSNP | Ensembl ].		VAR_047325
	Natural variant	2174	1	V → G. Ref.5 Corresponds to variant rs17856912 [ dbSNP | Ensembl ].		VAR_047326
Experimental info
	Sequence conflict	1735	1	I → N in AAH31064. Ref.5
	Sequence conflict	1861	1	S → A in CAE46048. Ref.3

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified November 25, 2008. Version 3. Checksum: 9C1C464DF95D2194	FASTA	2,179	244,154
	10 20 30 40 50 60 MNSLSWGAAN AVLLLLLLAW ASPTFISINR GVRVMKGHSA FLSGDDLKFA IPKEKDACKV 70 80 90 100 110 120 EVVMNEPITQ RVGKLTPQVF DCHFLPNEVK YVHNGCPILD EDTVKLRLYR FTERDTFIET 130 140 150 160 170 180 FILWVYLLEP DCNIIHMSNN VLEVPEFNGL SQAIDKNLLR FDYDRMASLE CTVSLDTART 190 200 210 220 230 240 RLPAHGQMVL GEPRPEEPRG DQPHSFFPES QLRAKLKCPG GSCTPGLKKI GSLKVSCEEF 250 260 270 280 290 300 LLMGLRYQHL DPPSPNIDYI SIQLDLTDTR SKIVYKSESA WLPVYIRAGI PNQIPKAAFM 310 320 330 340 350 360 AVFILEVDQF ILTSLTTSVL DCEEDETPKP LLVFNITKAP LQGYVTHLLD HTRPISSFTW 370 380 390 400 410 420 KDLSDMQIAY QPPNSSHSER RHDEVELEVY DFFFERSAPM TVHISIRTAD TNAPRVSWNT 430 440 450 460 470 480 GLSLLEGQSR AITWEQFQVV DNDDIGAVRL VTVGGLQHGW LTLRGGKGFL FTVADLQAGV 490 500 510 520 530 540 VRYHHDDSDS TKDFVVFRIF DGHHSIRHKF PINVLPKDDS PPFLITNVVI ELEEGQTILI 550 560 570 580 590 600 QGSMLRASDV DASDDYIFFN ITKPPQAGEI MKKPGPGLIG YPVHGFLQRD LFNGIIYYRH 610 620 630 640 650 660 FGGEIFEDSF QFVLWDSHEP PNLSVPQVAT IHITPVDDQL PKEAPGVSRH LVVKETEVAY 670 680 690 700 710 720 ITKKQLHFID SESYDRELVY TITTPPFFSF SHRHLDAGKL FMVDSIPKVV KNPTALELRS 730 740 750 760 770 780 FTQHAVNYMK VAYMPPMQDI GPHCRDVQFT FSVSNQHGGT LHGICFNITI LPVDNQVPEA 790 800 810 820 830 840 FTNPLKVTEG GQSIISTEHI LISDADTKLD NIDLSLRELP LHGRVELNGF PLNSGGTFSW 850 860 870 880 890 900 GDLHTLKVRY QHDGTEVLQD DLLLEVTDGT NSAEFVLHVE VFPVNDEPPV LKADLMPVMN 910 920 930 940 950 960 CSEGGEVVIT SEYIFATDVD SDNLKLMFVI AREPQHGVVR RAGVTVDQFS QRDVISEAVT 970 980 990 1000 1010 1020 YKHTGGEIGL MPCFDTITLV VSDGEAGPFV NGCCYNGPNP SVPLHASFPV YDLNITVYPV 1030 1040 1050 1060 1070 1080 DNQPPSIAIG PVFVVDEGCS TALTVNHLSA TDPDTAADDL EFVLVSPPQF GYLENILPSV 1090 1100 1110 1120 1130 1140 GFEKSNIGIS IDSFQWKDMN AFHINYVQSR HLRIEPTADQ FTVYVTDGKH HSLEIPFSII 1150 1160 1170 1180 1190 1200 INPTNDEAPD FVVQNITVCE GQMKELDSSI ISAVDLDIPQ DALLFSITQK PRHGLLIDRG 1210 1220 1230 1240 1250 1260 FSKDFSENKQ PANPHQKHAP VHSFSMELLK TGMRLTYMHD DSESLADDFT IQLSDGKHKI 1270 1280 1290 1300 1310 1320 LKTISVEVIP VNDEKPMLSK KAEIAMNMGE TRIISSAILS AIDEDSPREK IYYVFERLPQ 1330 1340 1350 1360 1370 1380 NGQLQLKIGR DWVPLSPGMK CTQEEVDLNL LRYTHTGAMD SQNQDSFTFY LWDGNNRSPA 1390 1400 1410 1420 1430 1440 LDCQITIKDM EKGDIVILTK PLVVSKGDRG FLTTTTLLAV DGTDKPEELL YVITSPPRYG 1450 1460 1470 1480 1490 1500 QIEYVHYPGV PITNFSQMDV VGQTVCYVHK SKVTVSSDRF RFIISNGLRT EHGVFEITLE 1510 1520 1530 1540 1550 1560 TVDRALPVVT RNKGLRLAQG AVGLLSPDLL QLTDPDTPAE NLTFLLVQLP QHGQLYLWGT 1570 1580 1590 1600 1610 1620 GLLQHNFTQQ DVDSKNVAYR HSGGDSQTDC FTFMATDGTN QGFIVNGRVW EEPVLFTIQV 1630 1640 1650 1660 1670 1680 DQLDKTAPRI TLLHSPSQVG LLKNGCYGIY ITSRVLKASD PDTEDDQIIF KILQGPKHGH 1690 1700 1710 1720 1730 1740 LENTTTGEFI HEKFSQKDLN SKTILYIINP SLEVNSDTVE FQIMDPTGNS ATPQILELKW 1750 1760 1770 1780 1790 1800 SHIEWSQTEY EVCENVGLLP LEIIRRGYSM DSAFVGIKVN QVSAAVGKDF TVIPSKLIQF 1810 1820 1830 1840 1850 1860 DPGMSTKMWN IAITYDGLEE DDEVFEVILN SPVNAVLGTK TKAAVKILDS KGGQCHPSYS 1870 1880 1890 1900 1910 1920 SNQSKHSTWE KGIWHLLPPG SSSSTTSGSF HLERRPLPSS MQLAVIRGDT LRGFDSTDLS 1930 1940 1950 1960 1970 1980 QRKLRTRGNG KTVRPSSVYR NGTDIIYNYH GIVSLKLEDD SFPTHKRKAK VSIISQPQKT 1990 2000 2010 2020 2030 2040 IKVAELPQAD KVESTTDSHF PRQDQLPSFP KNCTLELKGL FHFEEGIQKL YQCNGIAWKA 2050 2060 2070 2080 2090 2100 WSPQTKDVED KSCPAGWHQH SGYCHILITE QKGTWNAAAQ ACREQYLGNL VTVFSRQHMR 2110 2120 2130 2140 2150 2160 WLWDIGGRKS FWIGLNDQVH AGHWEWIGGE PVAFTNGRRG PSQRSKLGKS CVLVQRQGKW 2170 QTKDCRRAKP HNYVCSRKL
	Isoform 2 [UniParc]. Checksum: 9C26EC6E2953DAEF	FASTA	709	79,536
	10 20 30 40 50 60 MLKAALPLFT RFIISNGLRT EHGVFEITLE TVDRALPVVT RNKGLRLAQG AVGLLSPDLL 70 80 90 100 110 120 QLTDPDTPAE NLTFLLVQLP QHGQLYLWGT GLLQHNFTQQ DVDSKNVAYR HSGGDSQTDC 130 140 150 160 170 180 FTFMATDGTN QGFIVNGRVW EEPVLFTIQV DQLDKTAPRI TLLHSPSQVG LLKNGCYGIY 190 200 210 220 230 240 ITSRVLKASD PDTEDDQIIF KILQGPKHGH LENTTTGEFI HEKFSQKDLN SKTILYIINP 250 260 270 280 290 300 SLEVNSDTVE FQIMDPTGNS ATPQILELKW SHIEWSQTEY EVCENVGLLP LEIIRRGYSM 310 320 330 340 350 360 DSAFVGIKVN QVSAAVGKDF TVIPSKLIQF DPGMSTKMWN IAITYDGLEE DDEVFEVILN 370 380 390 400 410 420 SPVNAVLGTK TKAAVKILDS KGGQCHPSYS SNQSKHSTWE KGIWHLLPPG SSSSTTSGSF 430 440 450 460 470 480 HLERRPLPSS MQLAVIRGDT LRGFDSTDLS QRKLRTRGNG KTVRPSSVYR NGTDIIYNYH 490 500 510 520 530 540 GIVSLKLEDD SFPTHKRKAK VSIISQPQKT IKVAELPQAD KVESTTDSHF PRQDQLPSFP 550 560 570 580 590 600 KNCTLELKGL FHFEEGIQKL YQCNGIAWKA WSPQTKDVED KSCPAGWHQH SGYCHILITE 610 620 630 640 650 660 QKGTWNAAAQ ACREQYLGNL VTVFSRQHMR WLWDIGGRKS FWIGLNDQVH AGHWEWIGGE 670 680 690 700 PVAFTNGRRG PSQRSKLGKS CVLVQRQGKW QTKDCRRAKP HNYVCSRKL
	Isoform 3 [UniParc]. Checksum: 5EA052AFC7866A1D	FASTA	376	42,501
	10 20 30 40 50 60 MSTKMWNIAI TYDGLEEDDE VFEVILNSPV NAVLGTKTKA AVKILDSKGG QCHPSYSSNQ 70 80 90 100 110 120 SKHSTWEKGI WHLLPPGSSS STTSGSFHLE RRPLPSSMQL AVIRGDTLRG FDSTDLSQRK 130 140 150 160 170 180 LRTRGNGKTV RPSSVYRNGT DIIYNYHGIV SLKLEDDSFP THKRKAKVSI ISQPQKTIKV 190 200 210 220 230 240 AELPQADKVE STTDSHFPRQ DQLPSFPKNC TLELKGLFHF EEGIQKLYQC NGIAWKAWSP 250 260 270 280 290 300 QTKDVEDKSC PAGWHQHSGY CHILITEQKG TWNAAAQACR EQYLGNLVTV FSRQHMRWLW 310 320 330 340 350 360 DIGGRKSFWI GLNDQVHAGH WEWIGGEPVA FTNGRRGPSQ RSKLGKSCVL VQRQGKWQTK 370 DCRRAKPHNY VCSRKL
	Isoform 4 [UniParc]. Checksum: 33B5711E265D3BF4	FASTA	222	25,008
	10 20 30 40 50 60 MLDESLAVRR SKKCKEMIMH WEKKEDIDIV NTVDQLDKTA PRITLLHSPS QVGLLKNGCY 70 80 90 100 110 120 GIYITSRVLK ASDPDTEDDQ IIFKILQGPK HGHLENTTTG EFIHEKFSQK DLNSKTILYI 130 140 150 160 170 180 INPSLEVNSD TVEFQIMDPT GNSATPQILE LKWSHIEWSQ TEYEVCENVG LLPLEIIRRG 190 200 210 220 YSMDSAFVGI KVNQVSAAVG KDFTVIPSKL IQFDPGSSIL CL

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Identification of a novel cell-adhesive protein spatiotemporally expressed in the basement membrane of mouse developing hair follicle." Kiyozumi D., Osada A., Sugimoto N., Weber C.N., Ono Y., Imai T., Okada A., Sekiguchi K. Exp. Cell Res. 306:9-23(2005) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANTS LEU-439; VAL-863 AND PRO-2143.
[2]	"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 4). Tissue: Testis.
[3]	"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] (ISOFORM 3). Tissue: Fetal kidney.
[4]	"DNA sequence and analysis of human chromosome 9." Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L. , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I. Nature 429:369-374(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]	"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] (ISOFORM 2), VARIANTS PRO-2143 AND GLY-2174. Tissue: Testis.
[6]	"FREM1 mutations cause bifid nose, renal agenesis, and anorectal malformations syndrome." Alazami A.M., Shaheen R., Alzahrani F., Snape K., Saggar A., Brinkmann B., Bavi P., Al-Gazali L.I., Alkuraya F.S. Am. J. Hum. Genet. 85:414-418(2009) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS BNAR TRP-649 AND SER-1440.
[7]	"Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1." Slavotinek A.M., Baranzini S.E., Schanze D., Labelle-Dumais C., Short K.M., Chao R., Yahyavi M., Bijlsma E.K., Chu C., Musone S., Wheatley A., Kwok P.Y., Marles S., Fryns J.P., Maga A.M., Hassan M.G., Gould D.B., Madireddy L. , Li C., Cox T.C., Smyth I., Chudley A.E., Zenker M. J. Med. Genet. 48:375-382(2011) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS MOTA ARG-1324 AND ILE-2091.
[8]	"Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice." Vissers L.E.L.M., Cox T.C., Maga A.M., Short K.M., Wiradjaja F., Janssen I.M., Jehee F., Bertola D., Liu J., Yagnik G., Sekiguchi K., Kiyozumi D., van Bokhoven H., Marcelis C., Cunningham M.L., Anderson P.J., Boyadjiev S.A., Passos-Bueno M.R. , Veltman J.A., Smyth I., Buckley M.F., Roscioli T. PLoS Genet. 7:E1002278-E1002278(2011) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS TRIGNO2 GLN-498 AND VAL-1500.
+	Additional computationally mapped references.

Web resources

Mendelian genes FRAS1 related extracellular matrix 1 (FREM1)

Leiden Open Variation Database (LOVD)

Cross-references

Sequence databases
EMBL GenBank DDBJ	AB160987 mRNA. Translation: BAD89015.1. AK058190 mRNA. Translation: BAB71709.1. BX641104 mRNA. Translation: CAE46048.1. AL354672 Genomic DNA. No translation available. AL512643, AL390732 Genomic DNA. Translation: CAH71826.2. Sequence problems. AL390732, AL512643 Genomic DNA. Translation: CAH73848.1. BC031064 mRNA. Translation: AAH31064.2.
IPI	IPI00186984. IPI00477820. IPI00645359. IPI00922794.
RefSeq	NP_001171175.1. NM_001177704.1. NP_659403.4. NM_144966.5.
UniGene	Hs.50850.
3D structure databases
ProteinModelPortal	Q5H8C1.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000413394.
PTM databases
PhosphoSite	Q5H8C1.
Polymorphism databases
DMDM	215274141.
Proteomic databases
PaxDb	Q5H8C1.
PRIDE	Q5H8C1.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000380880; ENSP00000370262; ENSG00000164946. ENST00000422223; ENSP00000412940; ENSG00000164946. ENST00000427623; ENSP00000412597; ENSG00000164946.
GeneID	158326.
KEGG	hsa:158326.
UCSC	uc003zlm.3. human.
Organism-specific databases
CTD	158326.
GeneCards	GC09M014730.
HGNC	HGNC:23399. FREM1.
MIM	248450. phenotype. 608944. gene. 608980. phenotype. 614485. phenotype.
neXtProt	NX_Q5H8C1.
Orphanet	217266. BNAR syndrome. 3366. Isolated trigonocephaly. 2717. Oculotrichoanal syndrome.
PharmGKB	PA134892147.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG12793.
HOGENOM	HOG000231310.
HOVERGEN	HBG080222.
InParanoid	Q5H8C1.
Gene expression databases
ArrayExpress	Q5H8C1.
Bgee	Q5H8C1.
CleanEx	HS_FREM1.
Genevestigator	Q5H8C1.
GermOnline	ENSG00000164946. Homo sapiens.
Family and domain databases
Gene3D	3.10.100.10. 1 hit.
InterPro	IPR001304. C-type_lectin. IPR016186. C-type_lectin-like. IPR016187. C-type_lectin_fold. IPR003644. Calx_beta. [Graphical view]
Pfam	PF03160. Calx-beta. 1 hit. PF00059. Lectin_C. 1 hit. [Graphical view]
SMART	SM00034. CLECT. 1 hit. [Graphical view]
SUPFAM	SSF56436. C-type_lectin_fold. 1 hit.
PROSITE	PS00615. C_TYPE_LECTIN_1. False negative. PS50041. C_TYPE_LECTIN_2. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	158326.
NextBio	87697.
SOURCE	Search...

Entry information

Entry name

FREM1_HUMAN

Accession

Primary (citable) accession number: Q5H8C1
Secondary accession number(s): Q5VV00 , Q5VV01, Q6MZI4, Q8NEG9, Q96LI3

Entry history

Integrated into UniProtKB/Swiss-Prot:	August 16, 2005
Last sequence update:	November 25, 2008
Last modified:	May 1, 2013
This is version 91 of the entry and version 3 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.